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A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

作者信息

Lei K, Zhang Y, Dong Z, Sun Y, Yi Z, Chen Z

机构信息

Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China.

Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China.

出版信息

Clin Exp Dermatol. 2018 Jan;43(1):60-62. doi: 10.1111/ced.13241. Epub 2017 Sep 22.

DOI:10.1111/ced.13241
PMID:28940425
Abstract
摘要

相似文献

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A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

Clin Exp Dermatol. 2018-1

[2]
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[3]
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[4]
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[5]
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[7]
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[8]
X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia.

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[9]
Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family.

J Formos Med Assoc. 2003-6

[10]
New developments in the history of hypohidrotic ectodermal dysplasia.

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引用本文的文献

[1]
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

BMC Oral Health. 2024-1-27

[2]
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Variants and the X-Chromosome Inactivation Pattern.

Diagnostics (Basel). 2022-9-23

[3]
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

[4]
Pathogenic Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Front Genet. 2020-2-4

[5]
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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