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

• Main Authors: Gregorio Serra (Author), Vincenzo Antona (Author), Mario Giuffré (Author), Federica Li Pomi (Author), Lucia Lo Scalzo (Author), Ettore Piro (Author), Ingrid Anne Mandy Schierz (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2021-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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)...