Literature DB >> 8723567

The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report.

P Aurora1, C E Wallis, R M Winter.   

Abstract

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Year:  1996        PMID： 8723567     DOI： 10.1097/00019605-199604000-00009

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Authors:  P D Turnpenny; M P Bulman; T M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; S Ellard
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Authors:  P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

3.  Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome.

Authors:  Euden Bhutia; Arti Maria; Arushi Verma; Sidharth Kumar Sethi
Journal:  J Clin Neonatol       Date:  2014-01
  3 in total

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