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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Detalles Bibliográficos
Autores principales: Tajir, M, Lyahyai, J, Guaoua, S, El Alloussi, M, Sefiani, A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474213/
https://www.ncbi.nlm.nih.gov/pubmed/32953416
http://dx.doi.org/10.2478/bjmg-2020-0013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474213/
https://www.ncbi.nlm.nih.gov/pubmed/32953416
http://dx.doi.org/10.2478/bjmg-2020-0013

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