Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease.
Sundarrajan S et al.
Metabolic Brain Disease, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis.
Ismail FF et al.
International Journal of Dermatology, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members.
Zimmermann CE et al.
Acta Dermato-venereologica, 2019
WNT10A mutation results in severe tooth agenesis in a family of three sisters.
Abid MF et al.
Orthodontics & Craniofacial Research, 2018
WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).
Guazzarotti L et al.
Clinical Genetics, 2018
Schöpf-Schulz-Passarge syndrome associated with two new missense mutations in WNT10A.
Pauly KJ et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2018
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
Xu M et al.
Nature Communications, 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
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.
Tziotzios C et al.
The British Journal of Dermatology, 2014
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
Late diagnosis of ectodermal dysplasia syndrome.
Granger RH et al.
The Australasian Journal of Dermatology, 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