Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations i...

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Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4995424/
https://ncbi.nlm.nih.gov/pubmed/27672547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2014.01040
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