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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...
Autores principales: | Nie, Kailai, Huang, Junting, Liu, Longqian, Lv, Hongbin, Chen, Danian, Fan, Wei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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