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
10.2147/IMCRJ.S270487
Int Med Case Rep J
2020 Oct 7;13:487-492.
ctnnb1 nedsdv autism distal spastic tetraparesis heterozygous splice site variant intellectual disability
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/33116939/
Case Reports
PMC7548236
33116939
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability
2020