中国睑裂狭小-上睑下垂-内眦赘皮综合征患者中的三种新型FOXL2基因突变 - Suppr

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

作者信息

Or Siu-fong June, Tong Ming-for Tony, Lo Fai-man Ivan, Lam Tak-sum Stephen

机构信息

Clinical Genetic Service, Department of Health, Hong Kong SAR, China.

出版信息

Chin Med J (Engl). 2006 Jan 5;119(1):49-52.

PMID:16454982

Abstract

摘要

相似文献

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Chin Med J (Engl). 2006 Jan 5;119(1):49-52.

Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome.

J Hum Genet. 2001;46(12):733-6. doi: 10.1007/s100380170009.

A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):372-5.

Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Mutagenesis. 2006 Jan;21(1):35-9. doi: 10.1093/mutage/gei067. Epub 2006 Jan 4.

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60.

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Mutagenesis. 2011 Mar;26(2):283-9. doi: 10.1093/mutage/geq086. Epub 2010 Nov 10.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Int J Dermatol. 2007 Jan;46(1):61-3. doi: 10.1111/j.1365-4632.2007.03066.x.

Foxl2 function in ovarian development.

Mol Genet Metab. 2006 Jul;88(3):225-34. doi: 10.1016/j.ymgme.2006.03.005. Epub 2006 May 2.

FOXL2 mutations in Tunisian patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Clin Genet. 2010 Jun;77(6):601-3. doi: 10.1111/j.1399-0004.2010.01389.x. Epub 2010 Mar 5.

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome.

Fertil Steril. 2010 Feb;93(3):1006.e3-6. doi: 10.1016/j.fertnstert.2009.08.034. Epub 2009 Dec 6.

引用本文的文献

FOXF2 is required for cochlear development in humans and mice.

Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431.

Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.

Mol Vis. 2013 Nov 16;19:2298-305. eCollection 2013.

FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

Mol Vis. 2007 Jan 26;13:108-13.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献