同一患者同时患有Townes-Brocks综合征和Pendred综合征。 - Suppr

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Townes-Brocks and Pendred syndrome in the same patient.

作者信息

Yano S, Watanabe Y, Yoshino M, Aida K, Kato H

出版信息

Am J Med Genet. 1998 May 26;77(4):330-1.

PMID:9600745

Abstract

摘要

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引用本文的文献

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相似文献

Townes-Brocks and Pendred syndrome in the same patient.

Am J Med Genet. 1998 May 26;77(4):330-1.

Townes-Brocks syndrome.

J Med Genet. 1999 Feb;36(2):89-93.

Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.

J Pediatr Surg. 2008 Feb;43(2):391-3. doi: 10.1016/j.jpedsurg.2007.09.079.

Townes-Brocks syndrome with hypothyroidism.

Indian Pediatr. 2007 Feb;44(2):140-2.

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Ann Genet. 1989;32(2):120-3.

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A.

A new family with the Townes-Brocks syndrome.

Clin Genet. 1988 Sep;34(3):195-200. doi: 10.1111/j.1399-0004.1988.tb02862.x.

Hearing loss in Townes-Brocks syndrome.

Otolaryngol Head Neck Surg. 1994 Sep;111(3 Pt 1):175-80. doi: 10.1177/01945998941113P103.

Somatic mosaicism and variable expression of Townes-Brocks syndrome.

Am J Med Genet. 2002 Aug 1;111(2):230-1. doi: 10.1002/ajmg.10485.

[The Townes-Brocks syndrome].

An Esp Pediatr. 1996 Apr;44(4):364-6.

引用本文的文献

Endocrine abnormalities in Townes-Brocks syndrome.

Am J Med Genet A. 2013 Sep;161A(9):2266-73. doi: 10.1002/ajmg.a.36104. Epub 2013 Jul 25.

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Korean J Pediatr. 2010 Dec;53(12):1018-21. doi: 10.3345/kjp.2010.53.12.1018. Epub 2010 Dec 31.

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J Med Genet. 1999 Feb;36(2):89-93.