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6 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

Review 2. Congenital and idiopathic scoliosis: clinical and genetic aspects.

Authors: Philip F Giampietro; Robert D Blank; Cathleen L Raggio; Sajid Merchant; F Stig Jacobsen; Thomas Faciszewski; Sanjay K Shukla; Anne R Greenlee; Cory Reynolds; David B Schowalter
Journal: Clin Med Res Date: 2003-04

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

Evidence for autosomal recessive inheritance of costovertebral dysplasia.

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

Review 2. Congenital and idiopathic scoliosis: clinical and genetic aspects.

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.

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

5. Hereditary costovertebral dysplasia with malignant cerebral tumour.

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