Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

Coffin–Siris Syndrome (CSS, MIM 135900) is a rare genetic disorder, and mutations in ARID1B were recently shown to cause CSS. In this study, we report a novel ARID1B mutation identified by whole-exome sequencing in a patient with clinical features of CSS. We identified a novel heterozygous frameshif...

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Detalhes bibliográficos
Main Authors: Vals, Mari-Anne, Õiglane-Shlik, Eve, Nõukas, Margit, Shor, Riina, Peet, Aleksandr, Kals, Mart, Kivistik, Paula Ann, Metspalu, Andres, Õunap, Katrin
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4200437/
https://ncbi.nlm.nih.gov/pubmed/24569609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.25
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