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Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.
Kantaputra P, Kaewgahya M, Jotikasthira D, Kantaputra W. Kantaputra P, et al. Am J Med Genet A. 2014 Apr;164A(4):1041-8. doi: 10.1002/ajmg.a.36388. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458874
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 au …
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 mutatio …
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.
Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N. Nawaz S, et al. Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471313 Free PMC article.
WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutation in WNT10A was recently identified in odonto-onycho-dermal dysplasia (OODD; MIM 257980), a rare syndrome char …
WNT10A is expressed in the skin and epidermis and it has shown to be critical for the development of ectodermal appendages. A nonsense mutat …
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Adaimy L, et al. Am J Hum Genet. 2007 Oct;81(4):821-8. doi: 10.1086/520064. Epub 2007 Aug 9. Am J Hum Genet. 2007. PMID: 17847007 Free PMC article.
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidros …
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry h …
Variability in dentofacial phenotypes in four families with WNT10A mutations.
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE. Vink CP, et al. Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398796 Free PMC article.
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 Schopf-Schulz-Passarge syndrome (SSPS) …
Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to m …
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.
Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F. Tardieu C, et al. Clin Genet. 2017 Nov;92(5):477-486. doi: 10.1111/cge.12972. Epub 2017 Mar 19. Clin Genet. 2017. PMID: 28105635
In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome (SSPS). ...Anomalies in tooth morphology were frequently …
In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto- …