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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

Page 10 of 12

  1. Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a ...

    Authors: Vicki J Hwang, Dianna Maar, John Regan, Kathleen Angkustsiri, Tony J Simon and Flora Tassone

    Citation: BMC Medical Genetics 2014 15:106

    Content type: Research article

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  2. The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tum...

    Authors: Jean-Pierre Bayley, Rogier A Oldenburg, Jennifer Nuk, Attje S Hoekstra, Conny A van der Meer, Esther Korpershoek, Barbara McGillivray, Eleonora PM Corssmit, Winand NM Dinjens, Ronald R de Krijger, Peter Devilee, Jeroen C Jansen and Frederik J Hes

    Citation: BMC Medical Genetics 2014 15:111

    Content type: Research article

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  3. Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-...

    Authors: Michael Volodarsky, Yshaia Langer and Ohad S Birk

    Citation: BMC Medical Genetics 2014 15:110

    Content type: Case report

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  4. Biotinidase deficiency (BD) is an inborn error of metabolism in which some genetic variants correlate with the level of enzyme activity. Biotinidase activity, however, may be artifactually low due to enzyme la...

    Authors: Taciane Borsatto, Fernanda Sperb-Ludwig, Louise LC Pinto, Gisele R De Luca, Francisca L Carvalho, Carolina FM De Souza, Paula FV De Medeiros, Charles M Lourenço, Reinaldo LO Filho, Eurico C Neto, Pricila Bernardi, Sandra Leistner-Segal and Ida VD Schwartz

    Citation: BMC Medical Genetics 2014 15:96

    Content type: Research article

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  5. Mutations of fibroblast growth factor receptor 2 (FGFR2) account for a higher proportion of genetic cases of craniosynostosis than any other gene, and are associated with a wide spectrum of severity of clinical p...

    Authors: Aimee L Fenwick, Jacqueline AC Goos, Julia Rankin, Helen Lord, Tracy Lester, A Jeannette M Hoogeboom, Ans MW van den Ouweland, Steven A Wall, Irene MJ Mathijssen and Andrew OM Wilkie

    Citation: BMC Medical Genetics 2014 15:95

    Content type: Case report

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  6. The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused b...

    Authors: Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani, Marina Venturini, Roberto Maroldi, Piergiacomo Calzavara-Pinton and Marina Colombi

    Citation: BMC Medical Genetics 2014 15:91

    Content type: Case report

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  7. Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose o...

    Authors: Xin-Yi Xia, Na Li, Xiang Cao, Qiu-Yue Wu, Tian-Fu Li, Cui Zhang, Wei-Wei Li, Ying-Xia Cui, Xiao-Jun Li and Chun-Yan Xue

    Citation: BMC Medical Genetics 2014 15:97

    Content type: Research article

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  8. Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene....

    Authors: Rihwa Choi, Kyoung Il Jo, Dae-Hyun Ko, Dong Hwan Lee, Junghan Song, Dong-Kyu Jin, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Yong-Wha Lee and Hyung-Doo Park

    Citation: BMC Medical Genetics 2014 15:94

    Content type: Research article

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  9. Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinic...

    Authors: Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe D’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli and Adriana Franzese

    Citation: BMC Medical Genetics 2014 15:88

    Content type: Case report

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  10. SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that thes...

    Authors: Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn and Liborio Stuppia

    Citation: BMC Medical Genetics 2014 15:87

    Content type: Case report

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  11. DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-syst...

    Authors: Ying Qiao, Eloi Mercier, Jila Dastan, Jane Hurlburt, Barbara McGillivray, Albert E Chudley, Sandra Farrell, Francois P Bernier, ME Suzanne Lewis, Paul Pavlidis and Evica Rajcan-Separovic

    Citation: BMC Medical Genetics 2014 15:82

    Content type: Research article

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  12. Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual...

    Authors: Annette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, Anne Cecile Hellin, Mauricette Jamar, Vinciane Dideberg, Emmanuel K Rusingiza, Vincent Bours and Leon Mutesa

    Citation: BMC Medical Genetics 2014 15:79

    Content type: Research article

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  13. TBX1 and CRKL haploinsufficiency is thought to cause the cardiac phenotype of the 22q11.2 deletion syndrome. However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart d...

    Authors: Yue-Juan Xu, Sun Chen, Jian Zhang, Shao-Hai Fang, Qian-Qian Guo, Jian Wang, Qi-Hua Fu, Fen Li, Rang Xu and Kun Sun

    Citation: BMC Medical Genetics 2014 15:78

    Content type: Research article

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  14. Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyop...

    Authors: Mingqiu Zhang, Jia Chen, Dayong Si, Yu Zheng, Haixu Jiao, Zhaohui Feng, Zhengmao Hu and Ranhui Duan

    Citation: BMC Medical Genetics 2014 15:77

    Content type: Case report

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  15. Carnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unl...

    Authors: Ali Rashidi-Nezhad, Saeed Talebi, Homeira Saebnouri, Seyed Mohammad Akrami and Alexandre Reymond

    Citation: BMC Medical Genetics 2014 15:75

    Content type: Case report

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  16. Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 2...

    Authors: Hasan Dogan, Fatih Akdemir, Sener Tasdemir, Omer Atis, Eda Diyarbakir, Rahsan Yildirim, Mucahit Emet and Mevlit Ikbal

    Citation: BMC Medical Genetics 2014 15:74

    Content type: Research article

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  17. Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype...

    Authors: Barbara Vona, Indrajit Nanda, Cordula Neuner, Jörg Schröder, Vera M Kalscheuer, Wafaa Shehata-Dieler and Thomas Haaf

    Citation: BMC Medical Genetics 2014 15:72

    Content type: Case report

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  18. Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical informa...

    Authors: Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig and Joakim Klar

    Citation: BMC Medical Genetics 2014 15:71

    Content type: Research article

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  19. Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validate...

    Authors: Penny J Norsworthy, Jana Vandrovcova, Ellen RA Thomas, Archie Campbell, Shona M Kerr, Jennifer Biggs, Laurence Game, Anne K Soutar, Blair H Smith, Anna F Dominiczak, David J Porteous, Andrew D Morris, Generation Scotland and Timothy J Aitman

    Citation: BMC Medical Genetics 2014 15:70

    Content type: Research article

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  20. Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purp...

    Authors: Qi Liu, Zhen Wang, Yuhong Wu, Lihua Cao, Qingzhu Tang, Xuesha Xing, Hongwei Ma, Shifa Zhang and Yang Luo

    Citation: BMC Medical Genetics 2014 15:69

    Content type: Research article

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  21. Telomeres are repeated sequences (the hexanucleotide TTAGGG in vertebrates) located at chromosome ends of eukaryotes, protecting DNA from end joining or degradation. Telomeres become shorter with each cell cyc...

    Authors: Yasutaka Ueda, Rodrigo T Calado, Anna Norberg, Sachiko Kajigaya, Göran Roos, Eva Hellstrom-Lindberg and Neal S Young

    Citation: BMC Medical Genetics 2014 15:68

    Content type: Case report

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  22. Shwachman–Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in as...

    Authors: Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, Nicholas J Neill, David R Murdock, Matthew Bainbridge, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Wan Ip, Robert Paul Guillerman, James R Lupski and Alison A Bertuch

    Citation: BMC Medical Genetics 2014 15:64

    Content type: Case report

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  23. Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported ind...

    Authors: Carlotta Maria Vaccari, Maria Victoria Romanini, Ilaria Musante, Elisa Tassano, Stefania Gimelli, Maria Teresa Divizia, Michele Torre, Carmen Gloria Morovic, Margherita Lerone, Roberto Ravazzolo and Aldamaria Puliti

    Citation: BMC Medical Genetics 2014 15:63

    Content type: Case report

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  24. A higher prevalence of coeliac disease (CD) has been reported in patients with Williams-Beuren syndrome (WBS), though coexistence with other autoimmune diseases has not been evaluated.

    Authors: Stefano Stagi, Elisabetta Lapi, Maria Gabriella D’Avanzo, Giancarlo Perferi, Silvia Romano, Sabrina Giglio, Silvia Ricci, Chiara Azzari, Francesco Chiarelli, Salvatore Seminara and Maurizio de Martino

    Citation: BMC Medical Genetics 2014 15:61

    Content type: Research article

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  25. Association of melanoma, neural system tumors and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS genes has been reported in a small number of families worldwide and described as a discr...

    Authors: Simona Frigerio, Vittoria Disciglio, Siranoush Manoukian, Bernard Peissel, Gabriella Della Torre, Andrea Maurichi, Paola Collini, Barbara Pasini, Giacomo Gotti, Andrea Ferrari, Licia Rivoltini, Maura Massimino and Monica Rodolfo

    Citation: BMC Medical Genetics 2014 15:59

    Content type: Case report

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  26. Germ line mutations in BRCA1 and BRCA2 (BRCA1/2) and other susceptibility genes have been identified as genetic causes of hereditary breast and ovarian cancer (HBOC). To identify the disease-causing mutations in ...

    Authors: Felipe C Silva, Bianca CG Lisboa, Marcia CP Figueiredo, Giovana T Torrezan, Érika MM Santos, Ana C Krepischi, Benedito M Rossi, Maria I Achatz and Dirce M Carraro

    Citation: BMC Medical Genetics 2014 15:55

    Content type: Research article

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  27. Rh blood group system is the most complex and immunogenetic blood group system. Prevalent RHD alleles vary in different populations. We conducted the present study to examine the genotype of DEL individuals and t...

    Authors: Juan Gu, Xue-Dong Wang, Chao-Peng Shao, Jun Wang, An-Yuan Sun, Li-Hua Huang and Zhao-Lin Pan

    Citation: BMC Medical Genetics 2014 15:54

    Content type: Research article

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  28. Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 g...

    Authors: Milena Crippa, Ilaria Bestetti, Mario Perotti, Chiara Castronovo, Silvia Tabano, Chiara Picinelli, Guido Grassi, Lidia Larizza, Angela Ida Pincelli and Palma Finelli

    Citation: BMC Medical Genetics 2014 15:52

    Content type: Case report

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  29. SHORT syndrome is a rare autosomal dominant condition whose name is the acronym of short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay (MIM 269880). Additionally, ...

    Authors: Clea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, Diana A Puente, Joaquín Fernández-Toral, Sabine Sigaudy, Anwar Baban, Nicolas Lévy, Gloria Velasco and Carlos López-Otín

    Citation: BMC Medical Genetics 2014 15:51

    Content type: Case report

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  30. Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate d...

    Authors: Samuel P Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia F O’Lague, Nicole Mans, Joshua L Deignan, Eric Vilain, Stanley F Nelson, Wayne W Grody and Fabiola Quintero-Rivera

    Citation: BMC Medical Genetics 2014 15:49

    Content type: Case report

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  31. Patient genetic heterogeneity renders it difficult to discover disease-cause genes. Whole-exome sequencing is a powerful new strategy that can be used to this end. The purpose of the present study was to ident...

    Authors: Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo and Soo Kyung Koo

    Citation: BMC Medical Genetics 2014 15:46

    Content type: Research article

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  32. Diagnosis within RASopathies still represents a challenge. Nevertheless, many efforts have been made by clinicians to identify specific clinical features which might help in differentiating one disorder from a...

    Authors: Claudia Santoro, Giuseppe Pacileo, Giuseppe Limongelli, Saverio Scianguetta, Teresa Giugliano, Giulio Piluso, Fulvio Della Ragione, Mario Cirillo, Giuseppe Mirone and Silverio Perrotta

    Citation: BMC Medical Genetics 2014 15:44

    Content type: Case report

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  33. The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL), is reported to be caused by missense or splice site mutations in the human discoi...

    Authors: Adila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, Anne John, Abeer Al Sayegh, Anuradha Ganesh, Maha Al-Awadi, Lamya Al-Anbouri, Lihadh Al-Gazali, Birgit Leitinger and Bassam R Ali

    Citation: BMC Medical Genetics 2014 15:42

    Content type: Research article

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  34. Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes...

    Authors: Lena Obeidova, Veronika Elisakova, Jitka Stekrova, Jana Reiterova, Miroslav Merta, Vladimir Tesar, Frantisek Losan and Milada Kohoutova

    Citation: BMC Medical Genetics 2014 15:41

    Content type: Research article

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  35. The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular ...

    Authors: Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa and Filippo M Santorelli

    Citation: BMC Medical Genetics 2014 15:39

    Content type: Case report

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  36. Glycyl-tRNA synthetase (GARS) is an aminoacyl-tRNA synthetase (ARS) that links the amino acid glycine to its corresponding tRNA prior to protein translation and is one of three bifunctional ARS that are active...

    Authors: Hugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E Bulman, Chandree L Beaulieu, Jacek Majewski, Kym M Boycott and Michael T Geraghty

    Citation: BMC Medical Genetics 2014 15:36

    Content type: Case report

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  37. SCN2A is a gene that codes for the alpha subunit of voltage-gated, type II sodium channels, and is highly expressed in the brain. Sodium channel disruptions, such as mutations in SCN2A, may play an important rol...

    Authors: Teresa Tavassoli, Alexander Kolevzon, A Ting Wang, Jocelyn Curchack-Lichtin, Danielle Halpern, Lily Schwartz, Sarah Soffes, Lauren Bush, David Grodberg, Guiqing Cai and Joseph D Buxbaum

    Citation: BMC Medical Genetics 2014 15:35

    Content type: Case report

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  38. The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have docu...

    Authors: Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu and Qizhu Wu

    Citation: BMC Medical Genetics 2014 15:34

    Content type: Research article

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  39. α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the i...

    Authors: Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel quintão Roque, Bruno Giardina and Daniela Tavian

    Citation: BMC Medical Genetics 2014 15:32

    Content type: Case report

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  40. D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid oxidation. Few affected patients survive past two years of age. Compoun...

    Authors: Daniel S Lieber, Steven G Hershman, Nancy G Slate, Sarah E Calvo, Katherine B Sims, Jeremy D Schmahmann and Vamsi K Mootha

    Citation: BMC Medical Genetics 2014 15:30

    Content type: Case report

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  41. With a complex and extremely high clinical and genetic heterogeneity, autism spectrum disorders (ASD) are better dissected if one takes into account specific endophenotypes. Comorbidity of ASD with epilepsy (o...

    Authors: Maria Marchese, Valerio Conti, Giulia Valvo, Francesca Moro, Filippo Muratori, Raffaella Tancredi, Filippo M Santorelli, Renzo Guerrini and Federico Sicca

    Citation: BMC Medical Genetics 2014 15:26

    Content type: Research article

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  42. A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been describ...

    Authors: Hina Mir, Syed Irfan Raza, Muhammad Touseef, Mazhar Mustafa Memon, Muhammad Nasim Khan, Sulman Jaffar and Wasim Ahmad

    Citation: BMC Medical Genetics 2014 15:25

    Content type: Research article

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  43. Mutations in the cyclin-dependent kinase-like 5 (CDKL5) (NM_003159.2) gene have been associated with early-onset epileptic encephalopathies or Hanefeld variants of RTT(Rett syndrome). In order to clarify the CDKL...

    Authors: Ying Zhao, Xiaoying Zhang, Xinhua Bao, Qingping Zhang, Jingjing Zhang, Guangna Cao, Jie Zhang, Jiarui Li, Liping Wei, Hong Pan and Xiru Wu

    Citation: BMC Medical Genetics 2014 15:24

    Content type: Research article

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  44. Wilson’s disease (WD), a rare cause of neuropsychiatric deterioration, is associated with mutations in the ATP7B gene. Prion diseases are also rare causes of neuropsychiatric deterioration that can occur sporadic...

    Authors: Nauzer Forbes, Susan Goodwin, Kevin Woodward, David G Morgan, Lauren Brady, Michael B Coulthart and Mark A Tarnopolsky

    Citation: BMC Medical Genetics 2014 15:22

    Content type: Case report

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  45. Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for ...

    Authors: Danijela Krgovic, Ana Blatnik, Ante Burmas, Andreja Zagorac and Nadja Kokalj Vokac

    Citation: BMC Medical Genetics 2014 15:21

    Content type: Case report

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  46. Recessive genes cause disease when both copies are affected by mutant loci. Resolving the cis/trans relationship of variations has been an important problem both for researchers, and increasingly, clinicians. Of ...

    Authors: Kendall W Cradic, Stephen J Murphy, Travis M Drucker, Robert A Sikkink, Norman L Eberhardt, Claudia Neuhauser, George Vasmatzis and Stefan KG Grebe

    Citation: BMC Medical Genetics 2014 15:19

    Content type: Technical advance

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  47. Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely r...

    Authors: Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara and Maurizio de Martino

    Citation: BMC Medical Genetics 2014 15:16

    Content type: Case report

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