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

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

Abstract 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...

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Hlavní autoři: Marzieh Rahbaran, Maryam Hassani Doabsari, Simindokht Salavitabar, Neda Mokhberian, Ziba Morovvati, Saeid Morovvati
Médium: Článek
Jazyk:English
Vydáno: BMC 2019-08-01
Edice:Cellular & Molecular Biology Letters
Témata:
EDA
Gene
Hypohidrotic
Ectodermal
Dysplasia
On-line přístup:http://link.springer.com/article/10.1186/s11658-019-0174-9

Internet

http://link.springer.com/article/10.1186/s11658-019-0174-9

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