The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

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The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

Published:2001-03-27 Issue:4 Volume:17 Page:349-349
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pääkkönen Kati,Cambiaghi Stefano,Novelli Giuseppe,Ouzts Lizbeth V.,Penttinen Maila,Kere Juha,Srivastava Anand K.

Funder

Sigrid Juselius Foundation

Academy of Finland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 60 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. Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families;Oral Diseases;2023-12-21

2. New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G;Molecular Genetics & Genomic Medicine;2023-09-04

3. A Rare Incidence of Nonsyndromic Mandibular Incisor Agenesis in a Three-generation Family: Case Report and Literature Review;International Journal of Clinical Pediatric Dentistry;2023-05-12

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

5. Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics;Frontiers in Genetics;2022-07-06

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