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Article

De novo EDA mutations: Variable expression in two Egyptian families.

Archives of oral biology - 1 Aug 2016

Gaczkowska Agnieszka, Abdalla Ebtesam M, Dowidar Karin M L, Elhady Ghada M, Jagodzinski Pawel P, Mostowska Adrianna

Abstract excerpt

OBJECTIVE: Mutations in the EDA gene, encoding the epithelial morphogen ectodysplasin-A, can result in different but overlapping phenotypes. Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED). DESIGN: Direct sequencing of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27054699
DOI: 10.1016/j.archoralbio.2016.03.015

Genes

EDA
EDAR
MSX1
PAX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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