Two novel ectodysplasin A gene mutations and prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected. This study aimed at revealing the pathogenesis of two HED families and making a prenatal diagnosis for one pregnant female ca...

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Detalles Bibliográficos
Autores principales: Yu, Kang, Shen, Yihan, Jiang, Cai‐Ling, Huang, Wei, Wang, Feng, Wu, Yi‐Qun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606200/
https://www.ncbi.nlm.nih.gov/pubmed/34582123
http://dx.doi.org/10.1002/mgg3.1824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606200/
https://www.ncbi.nlm.nih.gov/pubmed/34582123
http://dx.doi.org/10.1002/mgg3.1824

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