A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl-Reference-Cited by-同舟云学术

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

Published:2017-09-22 Issue:1 Volume:43 Page:60-62
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Lei K.¹,Zhang Y.²,Dong Z.¹,Sun Y.³,Yi Z.²,Chen Z.²

Affiliation:

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

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

3. Ophtalmology Department of Central Hospital of Qingdao; Second Clinical Medical College of Qingdao University; Qingdao Shandong China

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13241/fullpdf

Reference5 articles.

1. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion;Mikkola;Mech Dev,1999

2. X-linked and autosomal recessive hypohidrotic ectodermal dysplasia: genotypic-dental phenotypic findings;Clauss;Clin Genet,2010

3. X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry;Fete;Am J Med Genet A,2014

4. Molecular evidence for the role of X-chromosome inactivation in linear presentation of X-linked hypohidrotic ectodermal dysplasia;Pavlovsky;Clin Exp Dermatol,2012

5. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene;Ørstavik;Am J Med Genet A,2007

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1. Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia;BMC Oral Health;2024-01-27

2. Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern;Diagnostics;2022-09-23

3. Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India;American Journal of Medical Genetics Part A;2021-12-04

4. No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia;Orphanet Journal of Rare Diseases;2021-02-23

5. Lésions linéaires : un signe dermatologique clé de la dysplasie ectodermique liée à l’X chez la fille;Annales de Dermatologie et de Vénéréologie;2020-09