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  1. Several studies have investigated the molecular drivers and therapeutic targets in adult soft tissue sarcomas. However, such studies are limited by the genomic heterogeneity and rarity of sarcomas, particularl...

    Authors: Jihyun Kim, June Hyuk Kim, Hyun Guy Kang, Seog Yun Park, Jung Yeon Yu, Eun Young Lee, Sung Eun Oh, Young Ho Kim, Tak Yun, Charny Park, Soo Young Cho and Hye Jin You
    Citation: BMC Medical Genetics 2018 19(Suppl 1):216
    Content type: Research Published on:

    This article is part of a Supplement: Volume 19 Supplement 1

  2. Infertility affects 15% of human couples, with men being responsible in approximately 50% of cases. Moreover, the aetiology of male factor infertility is poorly understood. The majority of male factor infertil...

    Authors: Maria Fernanda Skowronek, Tatiana Velazquez, Patricia Mut, Gonzalo Figueiro, Monica Sans, Bernardo Bertoni and Rossana Sapiro
    Citation: BMC Medical Genetics 2017 18:78
    Content type: Research article Published on:

  3. Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a con...

    Authors: Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová and Daniel Böhmer
    Citation: BMC Medical Genetics 2017 18:59
    Content type: Case report Published on:

  4. Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life cou...

    Authors: Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard and Justin B. Moore
    Citation: BMC Medical Genetics 2019 20:39
    Content type: Research article Published on:

  5. Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumul...

    Authors: Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez and Victor Trevino
    Citation: BMC Medical Genetics 2017 18:82
    Content type: Research article Published on:

  6. Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susce...

    Authors: Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal and Wasim Ahmad
    Citation: BMC Medical Genetics 2016 17:13
    Content type: Research article Published on:

  7. Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) ...

    Authors: Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen and Sarwat Jahan
    Citation: BMC Medical Genetics 2019 20:171
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genetics 2020 21:39

  8. It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patien...

    Authors: Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma and Jacques Simpore
    Citation: BMC Medical Genetics 2017 18:139
    Content type: Research article Published on:

  9. Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations...

    Authors: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo
    Citation: BMC Medical Genetics 2020 21:19
    Content type: Research article Published on:

  10. The genetics of fetal insulin release and/or action have been suggested to affect fetal growth, adult insulin resistance and adult body composition. The genetic correlation between body composition at birth ve...

    Authors: Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen and Anette Prior Gjesing
    Citation: BMC Medical Genetics 2018 19:207
    Content type: Research article Published on:

  11. Pharmacogenetics is a rapidly growing field that aims to identify the genes that influence drug response. This science can be used as a powerful tool to tailor drug treatment to the genetic makeup of individua...

    Authors: Basima Almomani, Ahmed F Hawwa, Nicola A Goodfellow, Jeffrey S Millership and James C McElnay
    Citation: BMC Medical Genetics 2015 16:32
    Content type: Research article Published on:

  12. Ovarian cancer (OC) is the most deadly gynaecological cancer, contributing significantly to female cancer-related deaths worldwide. Improving the outlook for OC patients depends on the identification of more r...

    Authors: Qian Zhao and Conghong Fan
    Citation: BMC Medical Genetics 2019 20:103
    Content type: Research article Published on:

  13. N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NA...

    Authors: Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch and Thomas Arnesen
    Citation: BMC Medical Genetics 2019 20:101
    Content type: Research article Published on:

  14. ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular diseases. However, the results remained controversial. In this study, we conducted a syste...

    Authors: Yanxia Li, Luyang Liu, Yubei Huang, Hong Zheng and Lian Li
    Citation: BMC Medical Genetics 2020 21:41
    Content type: Research article Published on:

  15. Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...

    Authors: Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude…
    Citation: BMC Medical Genetics 2016 17:34
    Content type: Research article Published on:

  16. Offspring of consanguineous couples are at increased risk of congenital disorders. The risk increases as parents are more closely related. Individuals that have the same degree of relatedness according to thei...

    Authors: W. Kelmemi, M. E. Teeuw, Z. Bochdanovits, S. Ouburg, M. A. Jonker, F. Alkuraya, M. Hashem, H. Kayserili, A. van Haeringen, E. Sheridan, A. Masri, J. M. Cobben, P. Rizzu, P. J. Kostense, C. J. Dommering, L. Henneman…
    Citation: BMC Medical Genetics 2015 16:50
    Content type: Research article Published on:

  17. Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in tw...

    Authors: Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang and Pu Dai
    Citation: BMC Medical Genetics 2018 19:157
    Content type: Research article Published on:

  18. Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ...

    Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang
    Citation: BMC Medical Genetics 2019 20:155
    Content type: Research article Published on:

  19. Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understoo...

    Authors: Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson and Dwight Stambolian
    Citation: BMC Medical Genetics 2019 20:27
    Content type: Research article Published on:

  20. Despite the significant interest in β2-Adrenergic receptor (ADRB2) polymorphisms related to asthma, whether ADRB2 genetic variants are similarly associated with acute respiratory tract infections have not been st...

    Authors: Pingsheng Wu, Emma K Larkin, Sara S Reiss, Kecia N Carroll, Marshall L Summar, Patricia A Minton, Kimberly B Woodward, Zhouwen Liu, Jessica Y Islam, Tina V Hartert and Paul E Moore
    Citation: BMC Medical Genetics 2015 16:82
    Content type: Research article Published on:

  21. Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystroph...

    Authors: Arrate Pereda, Intza Garin and Guiomar Perez de Nanclares
    Citation: BMC Medical Genetics 2018 19:32
    Content type: Research article Published on:

  22. Early detection of pregnancies at risk of complications, such as intrauterine growth restriction (IUGR) and preeclampsia (PE), is critical for improved monitoring and preventative treatment to optimize health ...

    Authors: Samantha L. Wilson, John D. Blair, Kirsten Hogg, Sylvie Langlois, Peter von Dadelszen and Wendy P. Robinson
    Citation: BMC Medical Genetics 2015 16:111
    Content type: Research article Published on:

  23. Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight-threatening complications of diabetes mellitus and leading causes of adult-onset blindness worldwide. Genetic risk factors fo...

    Authors: Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig…
    Citation: BMC Medical Genetics 2018 19:71
    Content type: Research article Published on:

  24. CpG island methylator phenotype (CIMP) is found in 15–20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not...

    Authors: Maria S. Fedorova, George S. Krasnov, Elena N. Lukyanova, Andrew R. Zaretsky, Alexey A. Dmitriev, Nataliya V. Melnikova, Alexey A. Moskalev, Sergey L. Kharitonov, Elena A. Pudova, Zulfiya G. Guvatova, Anastasiya A. Kobelyatskaya, Irina A. Ishina, Elena N. Slavnova, Anastasia V. Lipatova, Maria A. Chernichenko, Dmitry V. Sidorov…
    Citation: BMC Medical Genetics 2019 20(Suppl 1):52
    Content type: Research Published on:

    This article is part of a Supplement: Volume 20 Supplement 1

  25. In humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain. MTOR functions as an integrator of multiple...

    Authors: Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson and Sha Tang
    Citation: BMC Medical Genetics 2015 16:102
    Content type: Case report Published on:

  26. MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their sy...

    Authors: Diego Chacon-Cortes, Robert A. Smith, Larisa M. Haupt, Rodney A. Lea, Philippa H. Youl and Lyn R. Griffiths
    Citation: BMC Medical Genetics 2015 16:107
    Content type: Research article Published on:

  27. Mutations in Wilm’s tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 o...

    Authors: Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan and Anil Vasudevan
    Citation: BMC Medical Genetics 2017 18:3
    Content type: Technical advance Published on:

  28. The X-ray repair cross-complementing group 3 (XRCC3) is an efficient component of homologous recombination and is required for the preservation of chromosomal integrity in mammalian cells. The association between...

    Authors: Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar and Soudeh Ghafouri-Fard
    Citation: BMC Medical Genetics 2019 20:79
    Content type: Research article Published on:

  29. MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for...

    Authors: Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou and Qiuju Wang
    Citation: BMC Medical Genetics 2019 20:60
    Content type: Research article Published on:

  30. The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recur...

    Authors: Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen…
    Citation: BMC Medical Genetics 2016 17:35
    Content type: Research article Published on:

  31. The variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as wel...

    Authors: Tue H Hansen, Henrik Vestergaard, Torben Jørgensen, Marit Eika Jørgensen, Torsten Lauritzen, Ivan Brandslund, Cramer Christensen, Oluf Pedersen, Torben Hansen and Anette P Gjesing
    Citation: BMC Medical Genetics 2015 16:17
    Content type: Research article Published on:

  32. Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.

    Authors: Yu-Liang Jiang, Zi-Ye Zhao, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Hao Wang, En-Da Yu, Shu-Han Sun and Shou-Bin Ning
    Citation: BMC Medical Genetics 2018 19:141
    Content type: Research article Published on:

  33. Mutations in the coding region of FOXP2 are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of ...

    Authors: Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales and Paloma García-Bellido
    Citation: BMC Medical Genetics 2019 20:65
    Content type: Research article Published on:

  34. The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...

    Authors: Oluwafemi G. Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L. Haylett, Alvera A. Vorster, Carel J. van Heerden, Colin P. Kenyon, David L. Tabb, Michael B. Fawale, Taofiki A. Sunmonu, Abiodun Ajose, Matthew O. Olaogun, Anastasia C. Rossouw, Ludo S. van Hillegondsberg, Jonathan Carr, Owen A. Ross…
    Citation: BMC Medical Genetics 2020 21:23
    Content type: Research article Published on:

  35. Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic me...

    Authors: Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng and Hong Li
    Citation: BMC Medical Genetics 2018 19:17
    Content type: Research article Published on:

  36. Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...

    Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao
    Citation: BMC Medical Genetics 2020 21:43
    Content type: Research article Published on:

  37. HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clini...

    Authors: Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon and Mario Capasso
    Citation: BMC Medical Genetics 2019 20:37
    Content type: Research article Published on:

  39. We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

    Authors: Nurgul Sikhayeva, Aisha Iskakova, Nuria Saigi-Morgui, Elena Zholdybaeva, Chin-Bin Eap and Erlan Ramanculov
    Citation: BMC Medical Genetics 2017 18:76
    Content type: Research article Published on:

  40. Autosomal dominant polycystic kidney disease (ADPKD), the commonest inherited kidney disease, is generally caused by heterozygous mutations in PKD1, PKD2, or GANAB (PKD3).

    Authors: Wen-Bin He, Wen-Juan Xiao, Yue-Qiu Tan, Xiao-Meng Zhao, Wen Li, Qian-Jun Zhang, Chang-Gao Zhong, Xiu-Rong Li, Liang Hu, Guang-Xiu Lu, Ge Lin and Juan Du
    Citation: BMC Medical Genetics 2018 19:186
    Content type: Research article Published on:

  41. Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis wit...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth and Dhairya Pancholi
    Citation: BMC Medical Genetics 2018 19:76
    Content type: Case report Published on:

  42. The purpose of this study was to explore the effects of CYP2C19 gene polymorphisms and various environmental factors and their interactions on the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese Ha...

    Authors: Xian-E Peng, Hua-Fang Chen, Zhi-Jian Hu and Xi-Shun Shi
    Citation: BMC Medical Genetics 2015 16:15
    Content type: Research article Published on:

  43. Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells b...

    Authors: Sahar Gamil, Jeanette Erdmann, Ihab B. Abdalrahman and Abdelrahim O. Mohamed
    Citation: BMC Medical Genetics 2017 18:128
    Content type: Research article Published on:

  44. P19 H-Ras, a second product derived from the H-Ras gene by alternative splicing, induces a G1/S phase delay, thereby maintaining cells in a reversible quiescence state. When P21 H-Ras is mutated in tumour cells, ...

    Authors: Roseli García-Cruz, Maria Camats, George A. Calin, Chang-Gong Liu, Stefano Volinia, Cristian Taccioli, Carlo M. Croce and Montse Bach-Elias
    Citation: BMC Medical Genetics 2015 16:46
    Content type: Research article Published on:

  45. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and prog...

    Authors: Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles and Felix Claverie-Martin
    Citation: BMC Medical Genetics 2019 20:6
    Content type: Research article Published on:

  46. Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations hav...

    Authors: N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie and D. G. Evans
    Citation: BMC Medical Genetics 2017 18:40
    Content type: Case report Published on:

  47. Several type 2 diabetes (T2D) susceptibility loci identified via genome-wide association studies were found to be replicated among various populations. However, the influence of these loci on T2D in Thai popul...

    Authors: Nattachet Plengvidhya, Chutima Chanprasert, Nalinee Chongjaroen, Pa-thai Yenchitsomanus, Mayuree Homsanit and Watip Tangjittipokin
    Citation: BMC Medical Genetics 2018 19:93
    Content type: Research article Published on:

  48. Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ...

    Authors: Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury
    Citation: BMC Medical Genetics 2019 20:116
    Content type: Research article Published on:

  49. Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This st...

    Authors: Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki and Nobuoki Kohno
    Citation: BMC Medical Genetics 2017 18:88
    Content type: Research article Published on:

  50. Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor...

    Authors: José Inácio Salles, Lucas Rafael Lopes, Maria Eugenia Leite Duarte, Dylan Morrissey, Marilena Bezerra Martins, Daniel Escorsim Machado, João Antonio Matheus Guimarães and Jamila Alessandra Perini
    Citation: BMC Medical Genetics 2018 19:119
    Content type: Research article Published on:

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