Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference27 articles.
1. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation;Cui;Proc. Natl. Acad. Sci.,2006
2. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti;Smahi;Nature,2000
3. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene;Shimomura;J. Investig. Dermatol.,2004
4. Autosomal dominant ectodermal dysplasia;Jorgenson;J. Craniofac. Genet. Dev. Biol.,1987
5. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family;Aswegan;Am. J. Med. Genet.,1997
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1. 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
2. Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics;Frontiers in Genetics;2022-07-06
3. A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia;Cellular & Molecular Biology Letters;2019-08-19
4. Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia;Genetic Testing and Molecular Biomarkers;2018-08
5. Foreword;Oncology Informatics;2016
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