A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia

Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing revealed a novel, potentially pathogenic TP63 nonsense variant (NM_...

Descripción completa

Detalles Bibliográficos
Autores principales: Hori, Asuka, Migita, Ohsuke, Isogawa, Nobutaka, Takada, Fumio, Hata, Kenichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123001/
https://www.ncbi.nlm.nih.gov/pubmed/35595744
http://dx.doi.org/10.1038/s41439-022-00186-w

Ejemplares similares

Ejemplares similares