Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

American journal of medical genetics. Part A - 1 Apr 2014

Kantaputra P, Kaewgahya M, Jotikasthira D, Kantaputra W

Abstract excerpt

We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anodontia
Share to Ectodermal Dysplasia
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypotrichosis

Share to Keratoderma, Palmoplantar

Share to Mutation

Share to Nails, Malformed

Share to Wnt Proteins

Source

Identifiers

PMID: 24458874
DOI: 10.1002/ajmg.a.36388

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.PMID 24458874Read ↗

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.Semantic proximity Read ↗

Distinct impacts of bi‐allelic WNT10A mutations on the permanent and primary dentitions in odonto‐onycho‐dermal dysplasiaSemantic proximity Read ↗

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.Semantic proximity Read ↗

Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.Semantic proximity Read ↗

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.Semantic proximity Read ↗

WNT10A, dermatology and dentistry.Semantic proximity Read ↗

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis PhenotypeSemantic proximity Read ↗

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.Semantic proximity Read ↗

Variability in dentofacial phenotypes in four families with WNT10A mutations.Semantic proximity Read ↗

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.Semantic proximity Read ↗

Molecular Basis and Clinical Spectrum of WNT10A-Related Oligodontia.Semantic proximity Read ↗

WNT10B mutations associated with isolated dental anomalies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.