Abstract:
:The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a case with anterior eye chamber anomalies and an interstitial deletion of 6p24-p25 that does not include the FKHL7 gene, suggesting the possible additional involvement of another locus, within 6p24-6p25, in anterior eye chamber development. A candidate gene is AP-2alpha, which is contained within the deleted segment and plays a role in anterior eye chamber development.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Davies AF,Mirza G,Flinter F,Ragoussis Jkeywords:
subject
Has Abstractpub_date
1999-09-01 00:00:00pages
708-10issue
9eissn
0022-2593issn
1468-6244journal_volume
36pub_type
杂志文章abstract::This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dys...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.26.5.299
更新日期:1989-05-01 00:00:00
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.13.6.417
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更新日期:2018-06-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-12-01 00:00:00
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更新日期:2001-06-01 00:00:00
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journal_title:Journal of medical genetics
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doi:
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journal_title:Journal of medical genetics
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更新日期:1989-07-01 00:00:00
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更新日期:2008-07-01 00:00:00
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.2004.026138
更新日期:2005-05-01 00:00:00
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更新日期:1996-12-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2020-09-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.3.145
更新日期:1991-03-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2004.028787
更新日期:2005-09-01 00:00:00
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journal_title:Journal of medical genetics
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doi:10.1136/jmg.35.8.682
更新日期:1998-08-01 00:00:00
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更新日期:2001-08-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2008.063800
更新日期:2009-05-01 00:00:00
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journal_title:Journal of medical genetics
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更新日期:2012-11-01 00:00:00
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更新日期:2005-10-01 00:00:00
abstract:BACKGROUND:Data on the long-term motor outcomes of genome-wide association study (GWAS)-linked Parkinson disease (PD) carriers are useful for clinical management. OBJECTIVES:To characterise the association between GWAS-linked PARK16 gene variant and disease progression in PD over a 9-year time frame. METHODS:Over a 9...
journal_title:Journal of medical genetics
pub_type: 杂志文章
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更新日期:2019-11-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2014-102498
更新日期:2014-11-01 00:00:00
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journal_title:Journal of medical genetics
pub_type: 信件
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journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.16.4.278
更新日期:1979-08-01 00:00:00