A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

Published:2009-12-24 Issue:4 Volume:302 Page:307-310
ISSN:0340-3696
Container-title:Archives of Dermatological Research
language:en
Short-container-title:Arch Dermatol Res

Author:

Moya-Quiles M. R.,Ballesta-Martínez M. J.,López-González V.,Glover G.,Guillén-Navarro E.

Publisher

Springer Science and Business Media LLC

Subject

Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00403-009-1013-z.pdf

Reference15 articles.

1. Azeem Z, Naqvi SK, Ansar M, Wali A, Naveed AK, Ali G, Hassan MJ, Tariq M, Basit S, Ahmad W (2009) Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. Arch Dermatol Res 301:625–629

2. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A (2007) Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 28:703–709

3. Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC (2006) Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum Mutat 27:255–259

4. Headon DJ, Overbeek PA (1999) Involvement of a novel TNF receptor homologue in hair follicle induction. Nat Genet 22:370–374

5. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA (2001) Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nat Genet 414:913–916

Cited by 8 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. ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review;Respirology Case Reports;2021-11-05

2. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population;Orphanet Journal of Rare Diseases;2019-12

3. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families;The Journal of Gene Medicine;2019-08-05

4. Mutations inEDAandEDARGenes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia;Annals of Dermatology;2015

5. Qingfei Xiaoyan Wan alleviates asthma through multi-target network regulation;BMC Complementary and Alternative Medicine;2013-08-06