A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

The beta‐actin gene (ACTB) encodes a ubiquitous cytoskeletal protein, essential for embryonic development in humans. De novo heterozygous missense variants in the ACTB are implicated in causing Baraitser–Winter cerebrofrontofacial syndrome (BWCFFS; MIM#243310). ACTB pathogenic variants are rarely as...

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Detalles Bibliográficos
Autores principales: Sibbin, Kristina, Yap, Patrick, Nyaga, Denis, Heller, Raoul, Evans, Stephen, Strachan, Kate, Alburaiky, Salam, Nguyen, Han M. (Alex), Hermann‐Le Denmat, Sylvie, Ganley, Austen R. D., O'Sullivan, Justin M., Bloomfield, Frank H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302691/
https://www.ncbi.nlm.nih.gov/pubmed/34970864
http://dx.doi.org/10.1002/ajmg.a.62631

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