Condition: Odontoonychodermal dysplasia
rs121908120 in
WNT10A gene and
Odontoonychodermal dysplasia
PMID 24458874 2014 Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.
PMID 17847007 2007 Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
PMID 28589954 2017 WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
PMID 19559398 2009 WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
PMID 19471313 2009 WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.
PMID 24902757 2014 Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
PMID 22670871 2013 Late diagnosis of ectodermal dysplasia syndrome.
PMID 21143469 2011 Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
PMID 23167694 2013 Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
PMID 20163410 2010 Phenotypic variability associated with WNT10A nonsense mutations.
PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
PMID 28981473 2017 Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
rs121908119 in
WNT10A;LOC107984111 gene and
Odontoonychodermal dysplasia
PMID 25545742 2015 WNT10A coding variants and maxillary lateral incisor agenesis with associated dental anomalies.
PMID 24398796 2014 Variability in dentofacial phenotypes in four families with WNT10A mutations.
PMID 25629078 2015 Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.
PMID 24902757 2014 Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
PMID 24702986 2014 Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review.
PMID 23167694 2013 Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
PMID 19559398 2009 WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.