A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1-Reference-Cited by-同舟云学术

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A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1

Published:2023-09 Issue:5 Volume:98 Page:580-586
ISSN:0365-0596
Container-title:Anais Brasileiros de Dermatologia
language:en
Short-container-title:Anais Brasileiros de Dermatologia

Author:

Hajra Bibi^ORCID,Abdullah ^ORCID,Bibi Nousheen^ORCID,Syed Fibhaa^ORCID,Ullah Asmat^ORCID,Ahmad Wasim^ORCID,Umm-e-Kalsoom ^ORCID

Funder

Quaid-i-Azam University

Publisher

Elsevier BV

Subject

Dermatology

Reference25 articles.

1. Ectodermal dysplasias;Itin;Am J Med Genet C Semin Med Genet,2004

2. Ectodermal dysplasias: classification and organization by phenotype, genotype, and molecular pathway;Wright;Am J Med Genet A,2019

3. Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3;Tariq;Hum Genet,2009

4. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome;Brancati;Am J Hum Genet,2010

5. A novel heterozygous intragenic sequence variant in DLX6 probably underlies first case of autosomal dominant split-hand/foot malformation type 1;Ullah;Mol Syndromol,2017

Cited by 1 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. 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

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