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

作者信息

Nagy Nikoletta, Wedgeworth Emma, Hamada Takahiro, White Jonathan M, Hashimoto Takashi, McGrath John A

出版信息

J Dermatol Sci. 2010 Jun;58(3):220-2. doi: 10.1016/j.jdermsci.2010.03.012. Epub 2010 Mar 23.

DOI:10.1016/j.jdermsci.2010.03.012
PMID:20418069
Abstract
摘要

相似文献

[1]
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

J Dermatol Sci. 2010-6

[2]
Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Australas J Dermatol. 2011-6-29

[3]
Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Clin Genet. 2011-1

[4]
A case of Schöpf-Schulz-Passarge syndrome.

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[5]
Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance.

Am J Med Genet. 1997-8-8

[6]
Case report of Schöpf-Schulz-Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A.

J Dermatol. 2017-12-22

[7]
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

[8]
Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.

Br J Dermatol. 2014-10-15

[9]
Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis.

Int J Dermatol. 2020-2

[10]
[Schopf-Schulz-Passarge syndrome: 2 cases].

Ann Dermatol Venereol. 2001-12

引用本文的文献

[1]
The fundamentals of WNT10A.

Differentiation. 2025

[2]
Deleterious Variants in , and Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Int J Mol Sci. 2019-10-24

[3]
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.

Br J Dermatol. 2020-3

[4]
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2018-11-14

[5]
Role of the Wnt signaling molecules in the tooth.

Jpn Dent Sci Rev. 2016-11

[6]
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.

PLoS One. 2015-9-25

[7]
Variability in dentofacial phenotypes in four families with WNT10A mutations.

Eur J Hum Genet. 2014-9

[8]
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Hum Genet. 2013-9-17

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