Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofacial abnormalities. A recent study of a Ca...

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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, Barbara, Grangl, Gernot, Uhrig, Sabine, Mundlos, Stefan, Horn, Denise
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402616/
https://ncbi.nlm.nih.gov/pubmed/24916641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.109
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