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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.

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  1. 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 Published on:

  2. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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 Published on:

  16. 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 Published on:

  17. 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 Published on:

  18. 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 Published on:

  19. 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 Published on:

  20. 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 Published on:

  21. 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 Published on:

  22. 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 Published on:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and ...

    Authors: Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria and Daniela Melis
    Citation: BMC Medical Genetics 2014 15:15
    Content type: Case report Published on:

  30. Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous s...

    Authors: Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni and Bruno Dallapiccola
    Citation: BMC Medical Genetics 2014 15:14
    Content type: Research article Published on:

  31. A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became lega...

    Authors: Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez and Michael B Gorin
    Citation: BMC Medical Genetics 2014 15:11
    Content type: Case report Published on:

  32. SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.

    Authors: Bülent Kara, Özgecan Ayhan, Gülden Gökçay, Nurdan Başboğaoğlu and Aslıhan Tolun
    Citation: BMC Medical Genetics 2014 15:10
    Content type: Case report Published on:

  33. Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5...

    Authors: Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior and Maricilda Palandi de Mello
    Citation: BMC Medical Genetics 2014 15:7
    Content type: Case report Published on:

  34. The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, ...

    Authors: Yibo Yu, Yinhui Yu, Peiqing Chen, Jinyu Li, Yanan Zhu, Yi Zhai and Ke Yao
    Citation: BMC Medical Genetics 2014 15:6
    Content type: Research article Published on:

  35. Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis...

    Authors: Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli, Paolo Maiorca, Stefano Quinzani, Federica Verzeletti, Stefano Possenti, Marina Colombi and Giovanni Cancarini
    Citation: BMC Medical Genetics 2014 15:3
    Content type: Case report Published on:

  36. 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the c...

    Authors: Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini…
    Citation: BMC Medical Genetics 2014 15:1
    Content type: Research article Published on:

  37. Germline genetic testing for familial cancer syndromes is usually performed serially for the most likely genetic causes. In recent years the way genetic testing carried out has changed, as next generation sequ...

    Authors: Ellen Heitzer, Sigurd Lax, Ingrid Lafer, Stephanie M Müller, Gunda Pristauz, Peter Ulz, Stephan Jahn, Christoph Högenauer, Edgar Petru, Michael R Speicher and Jochen B Geigl
    Citation: BMC Medical Genetics 2013 14:129
    Content type: Case report Published on:

  38. The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu–Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria...

    Authors: Ana Fontalba, Jose L Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda, Virginia Albiñana, Maria L Ojeda-Fernández, Carmelo Bernabéu, Luis A Alcaraz and Luisa M Botella
    Citation: BMC Medical Genetics 2013 14:121
    Content type: Research article Published on:

  40. Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,X...

    Authors: Ana Paula dos Santos, Juliana Gabriel Ribeiro Andrade, Cristiane Santos Cruz Piveta, Juliana de Paulo, Gil Guerra-Junior, Maricilda Palandi de Mello and Andréa Trevas Maciel-Guerra
    Citation: BMC Medical Genetics 2013 14:115
    Content type: Research article Published on:

  41. Meningioma was the first solid tumor shown to contain a recurrent genetic alteration e.g. monosomy 22/del(22q), NF2 being the most relevant gene involved. Although monosomy 22/del(22q) is present in half of all m...

    Authors: MariaDolores Tabernero, María Jara-Acevedo, Ana B Nieto, Arancha Rodríguez Caballero, Álvaro Otero, Pablo Sousa, Jesús Gonçalves, Patricia H Domingues and Alberto Orfao
    Citation: BMC Medical Genetics 2013 14:114
    Content type: Research article Published on:

  42. Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12

    Authors: Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J Verroust, Mette Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik I Christensen and Renata Kozyraki
    Citation: BMC Medical Genetics 2013 14:111
    Content type: Research article Published on:

  43. Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis.

    Authors: Eline van Meel, Daniel J Wegner, Paul Cliften, Marcia C Willing, Frances V White, Stuart Kornfeld and F Sessions Cole
    Citation: BMC Medical Genetics 2013 14:106
    Content type: Research article Published on:

  44. Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.

    Authors: Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria Chiara Meschini, Angelo Schenone and Filippo M Santorelli
    Citation: BMC Medical Genetics 2013 14:105
    Content type: Case report Published on:

  45. Chromosomal instability is a hallmark of human cancer caused by errors in mitotic control and chromosome segregation. STAG2 encodes a subunit of the cohesion complex that participates in mitotic chromatid separat...

    Authors: Anna Djos, Susanne Fransson, Per Kogner and Tommy Martinsson
    Citation: BMC Medical Genetics 2013 14:102
    Content type: Research article Published on:

  46. We report on a patient with genetically confirmed overlapping diagnoses of CMT1A and FSHD. This case adds to the increasing number of unique patients presenting with atypical phenotypes, particularly in FSHD. ...

    Authors: Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser and Maggie C Walter
    Citation: BMC Medical Genetics 2013 14:92
    Content type: Case report Published on:

  47. Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and sk...

    Authors: Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni and Marina Mora
    Citation: BMC Medical Genetics 2013 14:89
    Content type: Case report Published on:

  48. The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic di...

    Authors: William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis and Penelope E Bonnen
    Citation: BMC Medical Genetics 2013 14:83
    Content type: Research article Published on:

  49. Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appea...

    Authors: Ambroise Wonkam, Jean Jacques N Noubiap, Jason Bosch, Collet Dandara and Geneviève Bengono Toure
    Citation: BMC Medical Genetics 2013 14:81
    Content type: Case report Published on:

  50. Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5’ UTR of the FMR1 gene (Xq27.3), leadi...

    Authors: Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia and Marina Grasso
    Citation: BMC Medical Genetics 2013 14:79
    Content type: Research article Published on:

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ISSN: 1471-2350

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