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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Bibliografiset tiedot
Julkaisussa:Intractable Rare Dis Res
Päätekijät: Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2016
Aiheet:
Case Report
Linkit: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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