A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families-Reference-Cited by-同舟云学术

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

Published:2019-08-05 Issue:9 Volume:21 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Sadia ¹,Foo Jia Nee²³,Khor Chiea Chuen³,Jelani Musharraf⁴,Ali Ghazanfar¹^ORCID

Affiliation:

1. Department of BiotechnologyUniversity of Azad Jammu and Kashmir Muzaffarabad Pakistan

2. Lee Kong Chian School of MedicineNanyang Technological University Singapore Singapore

3. Human GeneticsGenome Institute of Singapore Singapore Singapore

4. Center for Omic Sciences, Islamia College Peshawar Peshawar Pakistan

Publisher

Wiley

Subject

Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3113

Reference27 articles.

1. 2008 International Conference on Ectodermal Dysplasias Classification: Conference report

2. Ectodermal dysplasias: Clinical and molecular review

3. A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

4. Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

5. Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia

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1. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family;Genetics Research;2023-10-04

2. Ectodysplasin A/Ectodysplasin A Receptor System and Their Roles in Multiple Diseases;Frontiers in Physiology;2021-12-06