A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability

The catenin beta-1 (CTNNB1) gene, encoding a sub-unit of the cadherin/catenin protein complex that is involved in the Wnt signalling pathway important for proper interneuron development, is considered to be causative for the rare autosomal dominant mental retardation syndrome, formerly called MRD19...

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Detalhes bibliográficos
Publicado no:Int Med Case Rep J
Main Authors: Verhoeven, Willem M A, Egger, Jos I M, Jongbloed, Rob E, van Putten, Marloes Meijer, de Bruin-van Zandwijk, Marieke, Zwemer, Anne-Suus, Pfundt, Rolph, Willemsen, Marjolein H
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7548236/
https://ncbi.nlm.nih.gov/pubmed/33116939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/IMCRJ.S270487
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