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

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

Willem MA Verhoeven,1– 3 Jos IM Egger,3– 5 Rob E Jongbloed,6 Marloes Meijer van Putten,6 Marieke de Bruin-van Zandwijk,7 Anne-Suus Zwemer,7 Rolph Pfundt,4,8 Marjolein H Willemsen8 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, the Netherlands; 2Centre fo...

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Bibliographic Details
Main Authors: Verhoeven WMA, Egger JIM, Jongbloed RE, Meijer van Putten M, de Bruin-van Zandwijk M, Zwemer AS, Pfundt R, Willemsen MH
Format: Article
Language:English
Published: Dove Medical Press 2020-10-01
Series:International Medical Case Reports Journal
Subjects:
heterozygous splice site variant
ctnnb1
nedsdv
autism
intellectual disability
distal spastic tetraparesis
Online Access:https://www.dovepress.com/a-de-novo-ctnnb1-novel-splice-variant-in-an-adult-female-with-severe-i-peer-reviewed-article-IMCRJ

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https://www.dovepress.com/a-de-novo-ctnnb1-novel-splice-variant-in-an-adult-female-with-severe-i-peer-reviewed-article-IMCRJ

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