Variability in dentofacial phenotypes in four families with WNT10A mutations.

doi:10.1038/ejhg.2013.300

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Article

Variability in dentofacial phenotypes in four families with WNT10A mutations.

European journal of human genetics : EJHG - 1 Sept 2014

Vink Christian P, Ockeloen Charlotte W, ten Kate Sietske, Koolen David A, Ploos van Amstel Johannes Kristian, Kuijpers-Jagtman Anne-Marie, van Heumen Celeste C, Kleefstra Tjitske, Carels Carine E L

Abstract excerpt

This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in...

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Identifiers

PMID: 24398796
DOI: 10.1038/ejhg.2013.300
PMCID: PMC4135412

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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.