Abstract:
:An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension and missing skin creases over the terminal inter-phalangeal joints of the fingers. On the basis of our observations, we consider that this condition warrants acceptance as an autonomous AD entity.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Wallis CE,Shun-Shin M,Beighton PHdoi
10.1111/j.1399-0004.1988.tb02617.xsubject
Has Abstractpub_date
1988-07-01 00:00:00pages
64-9issue
1eissn
0009-9163issn
1399-0004journal_volume
34pub_type
杂志文章abstract::A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...
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pub_type: 杂志文章,评审
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journal_title:Clinical genetics
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pub_type: 杂志文章,评审
doi:10.1111/j.1399-0004.1993.tb03823.x
更新日期:1993-06-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12653
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journal_title:Clinical genetics
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更新日期:1980-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:1991-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:1983-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1978-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1979-08-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.2009.01334.x
更新日期:2010-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/cge.12508
更新日期:2015-10-01 00:00:00
abstract::In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF-child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the r...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1990.tb03504.x
更新日期:1990-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1994.tb04183.x
更新日期:1994-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2006.00607.x
更新日期:2006-05-01 00:00:00
abstract::Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, add...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.13789
更新日期:2020-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:
更新日期:1992-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.1998.5440406.x
更新日期:1998-10-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1034/j.1399-0004.2002.620411.x
更新日期:2002-10-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:1997-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1996.tb02384.x
更新日期:1996-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2005.00448.x
更新日期:2005-06-01 00:00:00