Hypohidrotic ectodermal dysplasia: A report of two cases-Reference-Cited by-同舟云学术

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Hypohidrotic ectodermal dysplasia: A report of two cases

Published:2016-06-06 Issue:4 Volume:44 Page:479-481
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Miyake Tomomi¹,Kiniwa Yukiko¹,Kosho Tomoki²,Nakano Hajime³,Okuyama Ryuhei¹

Affiliation:

1. Departments of Dermatology; Shinshu University School of Medicine; Matsumoto Japan

2. Departments of Medical Genetics; Shinshu University School of Medicine; Matsumoto Japan

3. Department of Dermatology; Hirosaki University School of Medicine; Hirosaki Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13479/fullpdf

Reference5 articles.

1. Ectodermal dysplasias;Itin;Am J Med Genet C Semin Med Genet,2004

2. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia;Burger;Am J Med Genet A,2014

3. Hereditary ectodermal dysplasia: a retrospective study;More;J Nat Sci Biol Med,2013

4. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations;Monreal;Am J Hum Genet,1998

5. A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules;Hsu;Br J Dermatol,2003

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. 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

3. Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib;Acta Dermato Venereologica;2021

4. A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia;Clinical and Experimental Dermatology;2020-12-20

5. Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis;Frontiers in Genetics;2020-02-04

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