A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

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A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia

Published:2020-12-20 Issue:3 Volume:46 Page:618-620
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Mintoff D.¹^ORCID,Pace N. P.²,Mercieca V.³,Bauer P.⁴,Borg I.²⁵⁶

Affiliation:

1. Department of Dermatology and Venereology Mater Dei Hospital Malta

2. Centre for Molecular Medicine and Biobanking University of Malta Malta

3. Department of Paediatrics Gozo General Hospital Victoria Gozo Malta

4. CENTOGENE AG Rostock Germany

5. Department of Pathology Faculty of Medicine and Surgery University of Malta Malta

6. Medical Genetics Unit Department of Pathology Mater Dei Hospital Malta

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14522

Reference12 articles.

1. Hypohidrotic ectodermal dysplasia: A report of two cases

2. A novel missense mutation (Gln306His) in exon 7 of the ED1 gene causing anhidrotic ectodermal dysplasia with prominent milia-like facial sebaceous papules

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

4. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

5. Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

Cited by 2 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. Expression of Mutant Ectodysplasin- A Gene in Hypohidrotic Ectodermal Dysplasia;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2022-04-15

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