Varaico: Literature-Extracted Genetic Variants

Gene:WNT10A
Variant:p.E233*
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WNT10A

NM_025216.3:p.E233*

Associated Papers

Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.

Lee S et al.

Frontiers in Genetics, 2023

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype.

Liu H et al.

Diagnostics (basel, Switzerland), 2022

Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Dąbrowska J et al.

Molecular Genetics and Genomics : Mgg, 2022

Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis.

Zeng Y et al.

Journal of Dental Research, 2021

WNT10A mutations causing oligodontia.

Park H et al.

Archives of Oral Biology, 2019

Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Yu M et al.

American Journal of Medical Genetics. Part A, 2019

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Du R et al.

Human Genetics, 2018

Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.

Hsu TC et al.

The Journal of Dermatology, 2018

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Dinckan N et al.

Journal of Dental Research, 2018

Molecular genetics and targeted therapy of WNT-related human diseases (Review).

Katoh M et al.

International Journal of Molecular Medicine, 2017

Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Yang J et al.

Molecular Genetics & Genomic Medicine, 2015

25629078 (PubMed )
Supplement: mgg30003-0040-sd1.docx

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Vink CP et al.

European Journal of Human Genetics : Ejhg, 2014

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J et al.

American Journal of Medical Genetics. Part A, 2013

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Petrof G et al.

The Australasian Journal of Dermatology, 2011

Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Castori M et al.

Clinical Genetics, 2011

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

Nagy N et al.

Journal of Dermatological Science, 2010

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S et al.

European Journal of Human Genetics : Ejhg, 2009

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

Bohring A et al.

American Journal of Human Genetics, 2009

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

Adaimy L et al.

American Journal of Human Genetics, 2007

Impacted Lower Second Permanent Molars at the Ramus and Coronoid Process: A New Clinical Symptom of the WNT10A Mutation in Ectodermal Dysplasia.

Sfeir E et al.

International Journal of Clinical Pediatric Dentistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."