A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic e...

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Bibliographic Details
Main Authors: Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
EDA
PGT-M
XLHED
Ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked recessive disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000902

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http://www.sciencedirect.com/science/article/pii/S2214426921000902

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