Literature DB >> 643463

[Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations].

J L Bonaime, B Bonne, A Joannard, L Guéraud, J Guilhot, B Cotton, J Butel, R Gilly, M Bost.   

Abstract

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Year:  1978        PMID： 643463

Source DB:  PubMed          Journal:  Pediatrie        ISSN： 0031-4021


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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.  Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

Authors:  S B Dowton; A V Hing; V Sheen-Kaniecki; M S Watson
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

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
  3 in total

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