Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Holger Hengel, Shabab B. Hannan, Sarah Dyack, Sara B. MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S. Alkuraya, Hamad Alzaidan, Hessa S. Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R. L Tags: Article Source Type: research