AB168. Novel DYM compound heterozygous mutations in a Malaysian boy with Dyggve-Melchior-Clausen syndrome

BACKGROUND: Dyggve-Melchior-Clausen (DMC) syndrome and Smith-McCort Dysplasia (SMC) are rare, progressive, autosomal recessive skeletal dysplasias caused by mutations in the Dymeclin (DYM) gene, mapped to chromosome 18q21.1. These are allelic disorders and share many features including short stature...

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Detalhes bibliográficos
Publicado no:Ann Transl Med
Main Authors: Ong, Winnie Peitee, Md Haniffa, Muzhirah Aisha, Leong, Huey Yin, Chew, Hui Bein, Ch’ng, Gaik Siew, Ngu, Lock Hock, Patel, Nisha, Hashem, Mais Omar, Alkuraya, Fowzan Sami, Keng, Wee Teik
Formato: Artigo
Idioma:Inglês
Publicado em: AME Publishing Company 2015
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Part 4: Oral/poster
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563434/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB168
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