Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome

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 disability. Howe...

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Detalles Bibliográficos
Autores principales: Nie, Kailai, Huang, Junting, Liu, Longqian, Lv, Hongbin, Chen, Danian, Fan, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989421/
https://www.ncbi.nlm.nih.gov/pubmed/35401677
http://dx.doi.org/10.3389/fgene.2022.828120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8989421/
https://www.ncbi.nlm.nih.gov/pubmed/35401677
http://dx.doi.org/10.3389/fgene.2022.828120

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