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Article

Oligodontia and curly hair occur with ectodysplasin-a mutations.

Journal of dental research - 1 Apr 2014

Lee K E, Ko J, Shin T J, Hyun H K, Lee S H, Kim J W

Abstract excerpt

Oligodontia is the developmental absence of more than 5 permanent teeth except for the third molar. Familial oligodontia can occur as an isolated form or as part of a genetic syndrome. Mutations in the MSX1, PAX9, AXIN2, EDA, and WNT10A genes have been identified in familial non-syndromic oligodontia. Ectodermal dysplasia is a group of syndromes involving abnormalities of the ectodermal structures and is...

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Source

Identifiers

PMID: 24487376
DOI: 10.1177/0022034514522059

Genes

EDA
AXIN2
MSX1
PAX9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oligodontia and curly hair occur with ectodysplasin-a mutations.PMID 24487376Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.Semantic proximity Read ↗

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.Semantic proximity Read ↗

[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].Semantic proximity Read ↗

A novel missense mutation in the ectodysplasin-A (EDA) gene underlies X-linked recessive nonsyndromic hypodontia.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

Axis inhibition protein 2 polymorphisms may be a risk factor for families with isolated oligodontia.Semantic proximity Read ↗

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.Semantic proximity Read ↗

Analyses of oligodontia phenotypes and genetic etiologies.Semantic proximity Read ↗

De novo EDA mutations: Variable expression in two Egyptian families.Semantic proximity Read ↗

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathwaySemantic proximity Read ↗

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

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