两例新型IV型瓦登伯格综合征的遗传和表型异质性 - Suppr

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

作者信息

Viñuela Antonio, Morín Matías, Villamar Manuela, Morera Constantino, Lavilla M José, Cavallé Laura, Moreno-Pelayo Miguel A, Moreno Felipe, del Castillo Ignacio

机构信息

Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.

出版信息

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.

DOI:10.1002/ajmg.a.33026

PMID:19764030

Abstract

摘要

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Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

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Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

作者信息

Viñuela Antonio, Morín Matías, Villamar Manuela, Morera Constantino, Lavilla M José, Cavallé Laura, Moreno-Pelayo Miguel A, Moreno Felipe, del Castillo Ignacio

机构信息

Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.

出版信息

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.

DOI:10.1002/ajmg.a.33026

PMID:19764030

Abstract

摘要

相似文献

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?

J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205.

Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.

J Med Genet. 2001 Sep;38(9):E30. doi: 10.1136/jmg.38.9.e30.

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.

BMJ Case Rep. 2022 Jun 20;15(6):e250360. doi: 10.1136/bcr-2022-250360.

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

Am J Med Genet A. 2014 Feb;164A(2):542-7. doi: 10.1002/ajmg.a.36302. Epub 2013 Dec 5.

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

Hum Mol Genet. 1995 Dec;4(12):2407-9. doi: 10.1093/hmg/4.12.2407.

Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

Am J Med Genet A. 2009 Oct;149A(10):2290-5. doi: 10.1002/ajmg.a.33031.

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172.

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.

Am J Med Genet A. 2018 May;176(5):1195-1199. doi: 10.1002/ajmg.a.38657.

Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV.

Int J Pediatr Otorhinolaryngol. 2016 Dec;91:67-71. doi: 10.1016/j.ijporl.2016.10.019. Epub 2016 Oct 15.

引用本文的文献

Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in .

Neural Plast. 2020 Aug 28;2020:8860837. doi: 10.1155/2020/8860837. eCollection 2020.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

AJNR Am J Neuroradiol. 2013 Jun-Jul;34(6):1257-63. doi: 10.3174/ajnr.A3367. Epub 2012 Dec 13.

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Mol Vis. 2012;18:2022-32. Epub 2012 Jul 20.

Sox proteins in melanocyte development and melanoma.

Pigment Cell Melanoma Res. 2010 Aug;23(4):496-513. doi: 10.1111/j.1755-148X.2010.00711.x. Epub 2010 Apr 22.

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

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Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

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