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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548236/ https://www.ncbi.nlm.nih.gov/pubmed/33116939 http://dx.doi.org/10.2147/IMCRJ.S270487

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