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

Abstract 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 var...

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Hlavní autoři: Asuka Hori, Ohsuke Migita, Nobutaka Isogawa, Fumio Takada, Kenichiro Hata
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2022-05-01
Edice:Human Genome Variation
On-line přístup:https://doi.org/10.1038/s41439-022-00186-w
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