A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia

PURPOSE: Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We report on a novel ectodysplasin-A (EDA) mutation that is...

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Detalles Bibliográficos
Autores principales: Rahbaran, Marzieh, Hassani Doabsari, Maryam, Salavitabar, Simindokht, Mokhberian, Neda, Morovvati, Ziba, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Letter
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700831/
https://www.ncbi.nlm.nih.gov/pubmed/31452656
http://dx.doi.org/10.1186/s11658-019-0174-9

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