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X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.

作者信息

Milovidova T B, Schagina O A, Freire M V, Demina N A, Filatova A Y, Skoblov M Y, Stepanova A A, Chuhrova A L, Polyakov A V

机构信息

Federal State Budgetary Scientific Institution "Research Centre for Medical Genetics", Moscow, Russia.

出版信息

J Eur Acad Dermatol Venereol. 2019 Dec;33(12):e468-e470. doi: 10.1111/jdv.15798. Epub 2019 Jul 30.

DOI:10.1111/jdv.15798
PMID:31306530
Abstract
摘要

相似文献

[1]
X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.

J Eur Acad Dermatol Venereol. 2019-12

[2]
[Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007-4

[3]
A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.

Oral Dis. 2018-6-8

[4]
Novel nonsense mutation of the EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

J Dermatol. 2014-11

[5]
Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia.

Int J Dermatol. 2011-11

[6]
[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].

Beijing Da Xue Xue Bao Yi Xue Ban. 2003-8

[7]
[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013-6

[8]
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

J Eur Acad Dermatol Venereol. 2016-2

[9]
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.

J Dermatol Sci. 2016-10

[10]
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia.

Genet Mol Res. 2015-12-2

引用本文的文献

[1]
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia.

Orphanet J Rare Dis. 2021-2-23

[2]
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

Orphanet J Rare Dis. 2020-1-10

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