article_metadata: Willem M A Verhoeven Jos I M Egger Rob E Jongbloed Marloes Meijer van Putten Marieke de Bruin-van Zandwijk Anne-Suus Zwemer Rolph Pfundt Marjolein H Willemsen
article_metadata: 10.2147/IMCRJ.S270487
article_metadata: Int Med Case Rep J
article_metadata: 2020 Oct 7;13:487-492.
article_metadata: ctnnb1 nedsdv autism distal spastic tetraparesis heterozygous splice site variant intellectual disability
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/33116939/
article_metadata: Case Reports
article_metadata: PMC7548236
article_metadata: 33116939
article_metadata: A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
article_metadata: 2020