Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG-Reference-Cited by-同舟云学术

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Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

Published:2010 Issue: Volume: Page:n/a-n/a
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gucev Zoran S.,Tasic Velibor,Pop-Jordanova Nada,Sparrow Duncan B.,Dunwoodie Sally L.,Ellard Sian,Young Elizabeth,Turnpenny Peter D.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33471/fullpdf

Reference36 articles.

1. The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: A case report;Aurora;Clin Dysmorphol,1996

2. Valproic acid and congenital malformations. A case report;Bantz;Clin Pediatr (Phila),1984

3. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village;Bonafé;Clin Genet,2003

4. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis;Bulman;Nat Genet,2000

5. Phenotype characterisation and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases;Cornier;Am J Med Genet Part A,2004

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