Literature DB >> 1623623

Identical twins with an autosomal recessive form of spondylocostal dysostosis.

M Satar1, M N Kozanoglu, E Atilla.   

Abstract

A form of spondylocostal dysostosis, marked by multiple vertebral clefts, costal bifurcation, and fusion was observed in identical male twins whose parents were first cousins. The lack of previous anomalies in the family, the high degree of parental inbreeding and the absence of deformities in a 3-year-old brother indicated an autosomal recessive mode of inheritance.

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Year:  1992        PMID: 1623623     DOI: 10.1111/j.1399-0004.1992.tb03399.x

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


  2 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

  2 in total

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