Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome
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DOI: 10.3389/fgene.2022.828120
Abstract: Baraitser–Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes ACTB or ACTG1. It is characterized by brain malformations, a distinctive facial appearance, ocular coloboma, and intellectual… read more here.
Keywords: actb; winter cerebrofrontofacial; novo heterozygous; variant ... See more keywords