Literature DB >> 7460377

Spondylocostal dysostosis in South African sisters.

P Beighton, F T Horan.   

Abstract

The clinical and radiographic features of two sisters with a severe form of spondylocostal dysostosis (SCD) are described and depicted Autosomal recessive inheritance is likely.

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Mesh：

Year:  1981        PMID： 7460377     DOI： 10.1111/j.1399-0004.1981.tb00662.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 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.  Congenital spinal deformity in a three generation family.

Authors:  I K Temple; T G Thomas; M Baraitser
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

4.  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.  Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn.

Authors:  Thierry Hervé Odéhouri-Koudou; Jean-Baptiste Yaokreh; Samba Tembély; Rufin Kobinan Dick
Journal:  Case Rep Orthop       Date:  2013-09-11
  5 in total

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