A novel de novo TP63 mutation in whole‐exome sequencing of a Syrian family with Oral cleft and ectrodactyly

BACKGROUND: Oral clefts and ectrodactyly are common, heterogeneous birth defects. We performed whole‐exome sequencing (WES) analysis in a Syrian family. The proband presented with both orofacial clefting and ectrodactyly but not ectodermal dysplasia as typically seen in ectrodactyly, ectodermal dysp...

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Detalles Bibliográficos
Autores principales: Simpson, Claire L., Kimble, Danielle C., Chandrasekharappa, Settara C., Alqosayer, Khalid, Holzinger, Emily, Carrington, Blake, McElderry, John, Sood, Raman, Al‐Souqi, Ghiath, Albacha‐Hejazi, Hasan, Bailey‐Wilson, Joan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422068/
https://www.ncbi.nlm.nih.gov/pubmed/37070724
http://dx.doi.org/10.1002/mgg3.2179

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