Literature DB >> 4423274

Costovertebral dysplasia.

C S Bartsocas, K A Kiossoglou, C V Papas, M Xanthou-Tsingoglou, D E Anagnostakis, H D Daskalopoulou.   

Abstract

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Mesh：

Year:  1974        PMID： 4423274

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  5 in total

1.  Spondylocostal dysostosis.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

2.  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

3.  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

4.  Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity.

Authors:  E A Devos; J G Leroy; J J Braeckman; L J Vanden Bulcke; L O Langer
Journal:  Eur J Pediatr       Date:  1978-05-22       Impact factor: 3.183

5.  Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis.

Authors:  P D Turnpenny; R J Thwaites; F N Boulos
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318
  5 in total

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