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

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) gene, l...

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, Giuffré, Mario, Li Pomi, Federica, Lo Scalzo, Lucia, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479907/
https://www.ncbi.nlm.nih.gov/pubmed/34583755
http://dx.doi.org/10.1186/s13052-021-01152-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479907/
https://www.ncbi.nlm.nih.gov/pubmed/34583755
http://dx.doi.org/10.1186/s13052-021-01152-y

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