Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with t...

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Bibliographic Details
Main Authors: Tajir M, Lyahyai J, Guaoua S, El Alloussi M, Sefiani A
Format: Article
Language:English
Published: Sciendo 2020-08-01
Series:Balkan Journal of Medical Genetics
Subjects:
ankyloblepharon
congenital ectodermal defect and clefting
hay-wells syndrome
sterile alpha motif (sam) domain
tp63 gene
Online Access:https://doi.org/10.2478/bjmg-2020-0013

Internet

https://doi.org/10.2478/bjmg-2020-0013

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