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

作者信息

Wedgeworth Emma K, Nagy Nikoletta, White Jonathan M L, Pembroke Andrew C, McGrath John A

出版信息

Acta Derm Venereol. 2011 May;91(3):346-7. doi: 10.2340/00015555-1028.

DOI:10.2340/00015555-1028
PMID:21279306
Abstract
摘要

相似文献

[1]
Intra-familial variability of ectodermal defects associated with WNT10A mutations.

Acta Derm Venereol. 2011-5

[2]
Phenotypic variability associated with WNT10A nonsense mutations.

Br J Dermatol. 2010-6

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

Australas J Dermatol. 2011-6-29

[4]
[Hidrotic ectodermal dysplasia].

Hautarzt. 1975-12

[5]
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Hum Mutat. 2011-1

[6]
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.

Ann Hum Genet. 2008-1

[7]
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

[8]
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family.

Hum Mutat. 2013-3-5

[9]
[Hidrotic ectodermal dysplasia. Report of a case].

Prensa Med Mex. 1970

[10]
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

BMC Med Genet. 2016-11-24

引用本文的文献

[1]
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer.

Clin Oral Investig. 2022-12

[2]
Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner Syndrome.

J Clin Aesthet Dermatol. 2020-6

[3]
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Genes (Basel). 2016-9-19

[4]
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

[5]
Variability in dentofacial phenotypes in four families with WNT10A mutations.

Eur J Hum Genet. 2014-9

[6]
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Hum Genet. 2013-9-17

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