A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.

08:00 EDT 12th April 2019 | BioPortfolio

Summary of "A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia."

ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes. Nonetheless, the mutations in some genes have been found in only one family affected with ED. Identification of more families with mutations in the same gene would confirm their etiologic roles. This article is protected by copyright. All rights reserved.


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This article was published in the following journal.

Name: The British journal of dermatology
ISSN: 1365-2133


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Medical and Biotech [MESH] Definitions

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.

Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).

A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.

An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

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