Abstract:
:Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Prasad C,Cramer BC,Pushpanathan C,Crowley MC,Ives EJdoi
10.1034/j.1399-0004.2000.580510.xsubject
Has Abstractpub_date
2000-11-01 00:00:00pages
390-5issue
5eissn
0009-9163issn
1399-0004journal_volume
58pub_type
杂志文章,评审abstract::The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of 5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons ...
journal_title:Clinical genetics
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abstract::Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...
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journal_title:Clinical genetics
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abstract::We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...
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journal_title:Clinical genetics
pub_type: 杂志文章,meta分析,评审
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1983-02-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2018-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02521.x
更新日期:1997-08-01 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:1983-04-01 00:00:00
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journal_title:Clinical genetics
pub_type: 信件
doi:10.1111/cge.13064
更新日期:2017-11-01 00:00:00
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abstract::Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus fo...
journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1998-12-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2013-09-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1988-10-01 00:00:00