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Phenotypic variability associated with WNT10A nonsense mutations.

作者信息

Van Geel M, Gattas M, Kesler Y, Tong P, Yan H, Tran K, Steijlen P M, Murrell D F, Van Steensel M A M

出版信息

Br J Dermatol. 2010 Jun;162(6):1403-6. doi: 10.1111/j.1365-2133.2010.09703.x. Epub 2010 Feb 15.

DOI:10.1111/j.1365-2133.2010.09703.x
PMID:20163410
Abstract
摘要

相似文献

[1]
Phenotypic variability associated with WNT10A nonsense mutations.

Br J Dermatol. 2010-6

[2]
Intra-familial variability of ectodermal defects associated with WNT10A mutations.

Acta Derm Venereol. 2011-5

[3]
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Australas J Dermatol. 2011-6-29

[4]
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

J Dermatol Sci. 2010-6

[5]
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families.

Br J Dermatol. 2013-8

[6]
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Clin Genet. 2011-1

[7]
WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Eur J Hum Genet. 2009-5-27

[8]
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Am J Hum Genet. 2009-7

[9]
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.

Nat Commun. 2017-6-7

[10]
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

Br J Dermatol. 2009-11-9

引用本文的文献

[1]
Deleterious Variants in , and Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Int J Mol Sci. 2019-10-24

[2]
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2018-11-14

[3]
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

BMC Dermatol. 2016-3-10

[4]
Variability in dentofacial phenotypes in four families with WNT10A mutations.

Eur J Hum Genet. 2014-9

[5]
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Hum Genet. 2013-9-17

[6]
Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature.

Case Rep Dermatol. 2012-9

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