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Article

Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.

The British journal of dermatology - 1 Mar 2013

Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by hypotrichosis, hypohidrosis and hypodontia. A de novo heterozygous mutation in the tumour necrosis factor receptor-associated factor 6 gene (TRAF6) was recently identified in a patient with HED, while functio...

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Topics

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22924441
DOI: 10.1111/bjd.12018

Genes

TRAF6
EDARADD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22924441-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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