Article
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Genes - 8 Sept 2021
Ahmed Hoda A, El-Kamah Ghada Y, Rabie Eman, Mostafa Mostafa I, Abouzaid Maha R, Hassib Nehal F, Mehrez Mennat I, Abdel-Kader Mohamed A, Mohsen Yasmine H, Zada Suher K, Amr Khalda S, Sayed Inas S M
Abstract excerpt
Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands. Molecular pathogenesis of ED involves mutations of genes encoding key proteins of major developmental pathways, including ectodysplasin (EDA) and wingless-type (WNT) pathways. The most common ED phenotype...
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