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Article

Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.

International journal of dermatology - 1 Nov 2011

Kim Ji-Hyun, Lim In-Seok, Choi Eung-Sang, Lee Hye-In, Kim Beom-Joon, Kim Myeung-Nam, Lee Seung-Tae, Kim Hee-Jin, Kim Jong-Won, Ki Chang-Seok, Kim Beom-Joon

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Share to Adolescent
Share to Chromosomes, Human, X
Share to Ectodermal Dysplasia 1, Anhidrotic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodysplasins

Share to Genetic Testing

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Republic of Korea

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Identifiers

PMID: 22004506
DOI: 10.1111/j.1365-4632.2010.04549.x

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Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.PMID 22004506Read ↗

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.Semantic proximity Read ↗

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.Semantic proximity Read ↗

[A novel ectodysplasin-A receptor gene variant identified by whole-exome sequencing with hypohidrotic ectodermal dysplasia in a Chinese family].Semantic proximity Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

[Identification of a novel c.822 G>T mutation of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.Semantic proximity Read ↗

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation.Semantic proximity Read ↗

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.Semantic proximity Read ↗

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