由WNT10A基因纯合无义突变导致的舍普夫-舒尔茨-帕萨尔热综合征。 - Suppr

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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

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

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相似文献

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

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

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

Australas J Dermatol. 2011 Aug;52(3):224-6. doi: 10.1111/j.1440-0960.2011.00788.x. Epub 2011 Jun 29.

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

Clin Genet. 2011 Jan;79(1):92-5. doi: 10.1111/j.1399-0004.2010.01513.x.

A case of Schöpf-Schulz-Passarge syndrome.

Clin Exp Dermatol. 2005 Sep;30(5):528-30. doi: 10.1111/j.1365-2230.2005.01855.x.

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

Am J Med Genet. 1997 Aug 8;71(2):186-8. doi: 10.1002/(sici)1096-8628(19970808)71:2<186::aid-ajmg12>3.0.co;2-a.

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

J Dermatol. 2018 Apr;45(4):475-478. doi: 10.1111/1346-8138.14201. Epub 2017 Dec 22.

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 Mar 10;16:3. doi: 10.1186/s12895-016-0040-7.

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

Br J Dermatol. 2014 Nov;171(5):1211-4. doi: 10.1111/bjd.13158. Epub 2014 Oct 15.

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

Int J Dermatol. 2020 Feb;59(2):257-258. doi: 10.1111/ijd.14616. Epub 2019 Aug 29.

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

Ann Dermatol Venereol. 2001 Dec;128(12):1330-3.

引用本文的文献

The fundamentals of WNT10A.

Differentiation. 2025 Mar-Apr;142:100838. doi: 10.1016/j.diff.2025.100838. Epub 2025 Jan 30.

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

Int J Mol Sci. 2019 Oct 24;20(21):5282. doi: 10.3390/ijms20215282.

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

Br J Dermatol. 2020 Mar;182(3):564-573. doi: 10.1111/bjd.18033. Epub 2019 Jul 24.

Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2019 Jul;23(7):3103-3113. doi: 10.1007/s00784-018-2731-4. Epub 2018 Nov 14.

Role of the Wnt signaling molecules in the tooth.

Jpn Dent Sci Rev. 2016 Nov;52(4):75-83. doi: 10.1016/j.jdsr.2016.04.001. Epub 2016 May 5.

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

PLoS One. 2015 Sep 25;10(9):e0138221. doi: 10.1371/journal.pone.0138221. eCollection 2015.

Variability in dentofacial phenotypes in four families with WNT10A mutations.

Eur J Hum Genet. 2014 Sep;22(9):1063-70. doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8.

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

Hum Genet. 2014 Jan;133(1):117-24. doi: 10.1007/s00439-013-1360-x. Epub 2013 Sep 17.