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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Vals, Mari-Anne, Õiglane-Shlik, Eve, Nõukas, Margit, Shor, Riina, Peet, Aleksandr, Kals, Mart, Kivistik, Paula Ann, Metspalu, Andres, Õunap, Katrin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2014
Schlagworte:
Short Report
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge