Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63)...

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Bibliographic Details
Main Authors: Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2021-09-01
Series:Italian Journal of Pediatrics
Subjects:
Hay-Wells syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
AEC syndrome
Tumor protein p63 gene
Congenital skin disorders
Ectodermal dysplasia
Online Access:https://doi.org/10.1186/s13052-021-01152-y

Internet

https://doi.org/10.1186/s13052-021-01152-y

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