Literature DB >> 5722643

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

D L Rimoin, B D Fletcher, V A McKusick.   

Abstract

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Year:  1968        PMID： 5722643     DOI： 10.1016/0002-9343(68)90193-9

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  16 in total

1.  A genetic and anthropological study of atlanto-occipital fusion.

Authors:  A K Kalla; S Khanna; I P Singh; S Sharma; R Schnobel; F Vogel
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

2.  Spondylocostal dysostosis.

Authors:  A Kher; M Bhat; K L Ratnam; S Khambadkone; B A Bharucha; S F Irani
Journal:  Indian J Pediatr       Date:  1993 Nov-Dec       Impact factor: 1.967

3.  Spondylocostal dysostosis.

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

4.  Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

Authors:  R S Wadia; D B Shirole; M S Dikshit
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

5.  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

6.  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

7.  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

8.  Hereditary costovertebral dysplasia with malignant cerebral tumour.

Authors:  T J David; A Glass
Journal:  J Med Genet       Date:  1983-12       Impact factor: 6.318

9.  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

10.  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
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