A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

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A novel missense mutation in the geneEDARADDassociated with an unusual phenotype of hypohidrotic ectodermal dysplasia

Published:2015-10-05 Issue:1 Volume:170 Page:249-253
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wohlfart Sigrun¹,Söder Stephan²,Smahi Asma³,Schneider Holm¹

Affiliation:

1. Department of Pediatrics; German Competence Center for Children with Ectodermal Dysplasias; University Hospital Erlangen; Erlangen Germany

2. Department of Pathology; University Hospital Erlangen; Erlangen Germany

3. Department of Genetics; INSERM U781; Hôpital Necker-Enfants Malades; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37412/fullpdf

Reference19 articles.

1. Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia;Al Marzouqi;Br J Dermatol,2014

2. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus;Bal;Hum Mutat,2007

3. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy;Blüschke;Early Hum Dev,2010

4. Is there a link between ovarian cancer and tooth agenesis?;Bonds;Eur J Med Genet,2014

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

Cited by 24 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. Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature;Italian Journal of Pediatrics;2024-06-05

2. A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia;Clinical, Cosmetic and Investigational Dermatology;2024-06

3. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia;Children;2023-10-22

4. A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism;Genes & Genetic Systems;2023-08-01

5. Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review;The Journal of Dermatology;2023-06-02

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