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Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report

BACKGROUND: We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in GJB6 (c.31G>A). The patients in the family had a triad of clinical manifestations of varying degrees. Although the same variation locus have been reported, the clinical...

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Detalles Bibliográficos
Autores principales: Liao, Ming-Yi, Peng, Hui, Li, Long-Nian, Yang, Tao, Xiong, Shi-Yin, Ye, Xiao-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10013106/
https://www.ncbi.nlm.nih.gov/pubmed/36926140
http://dx.doi.org/10.12998/wjcc.v11.i6.1403