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Article

Novel missense mutation in the EDA gene in a family affected by oligodontia.

Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie - 1 Jan 2016

Ruiz-Heiland Gisela, Jabir Sarah, Wende Wolfgang, Blecher Sonja, Bock Niko, Ruf Sabine

Abstract excerpt

BACKGROUND: Mutations in the EDA-EDAR-EDARADD genes and more recently, mutations in the WNT10A gene have been described as the cause of syndromic and nonsyndromic tooth agenesis concomitant with diverse abnormalities of ectodermally derived tissues. AIM: In the present investigation, two brothers presenting severe tooth agenesis (oligodontia) concomitant with subtle signs of ectodermal dysplasia (ED) symptoms, as...

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Source

Identifiers

PMID: 26753551
DOI: 10.1007/s00056-015-0005-1

Genes

EDA
EDAR
EDARADD

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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