Abstract:
:We describe an African American family with Hoyeraal-Hreidarrson syndrome (HHS) in which 2 TERT mutations (causing P530L and A880T amino acid changes) and two in the DKC1 variants (G486R and A487A) were segregating. Both genes are associated with dyskeratosis congenita and HHS. It was important to determine the importance of these mutations in disease pathogenesis to counsel family members. From genetic analysis of family members, telomere length and X-inactivation studies we concluded that compound heterozygosity for the TERT mutations was the major cause of HHS and the DKC1 G486R variant is a rare African variant unlikely to cause disease.
journal_name
Pediatr Blood Cancerjournal_title
Pediatric blood & cancerauthors
Vogiatzi P,Perdigones N,Mason PJ,Wilson DB,Bessler Mdoi
10.1002/pbc.24389subject
Has Abstractpub_date
2013-06-01 00:00:00pages
E4-6issue
6eissn
1545-5009issn
1545-5017journal_volume
60pub_type
杂志文章abstract::Two thirds of children with cancer never reach a specialist centre for treatment in South Africa. The majority of those who present have advanced disease. A campaign was undertaken to educate the public and the primary health workers on the Saint Siluan early warning signs of cancer in children. There was a statistica...
journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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journal_title:Pediatric blood & cancer
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journal_title:Pediatric blood & cancer
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更新日期:2017-08-01 00:00:00
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journal_title:Pediatric blood & cancer
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journal_title:Pediatric blood & cancer
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更新日期:2011-02-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2013-04-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2008-08-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2013-11-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2007-03-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21480
更新日期:2008-06-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21504
更新日期:2008-07-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2014-11-01 00:00:00
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更新日期:2018-01-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.21131
更新日期:2008-02-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,实务指引,评审
doi:10.1002/pbc.25939
更新日期:2016-06-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章,评审
doi:10.1002/pbc.21412
更新日期:2008-02-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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journal_title:Pediatric blood & cancer
pub_type: 临床试验,杂志文章
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更新日期:2018-08-01 00:00:00
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journal_title:Pediatric blood & cancer
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doi:10.1002/pbc.24024
更新日期:2012-10-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.26447
更新日期:2017-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2006-08-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
doi:10.1002/pbc.24414
更新日期:2013-03-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2020-10-01 00:00:00
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journal_title:Pediatric blood & cancer
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更新日期:2017-05-01 00:00:00
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journal_title:Pediatric blood & cancer
pub_type: 杂志文章
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更新日期:2015-11-01 00:00:00