Literature DB >> 2070546

Familial Jarcho-Levin syndrome.

M G Romeo1, G Distefano, D Di Bella, A Mangiagli, L Caltabiano, S Roccaro, F Mollica.   

Abstract

Jarcho-Levin syndrome is a variety of autosomal recessive spondylocostal dysostosis characterized by severe deformity of the thoracic cage, leading to respiratory failure and early death. There are often associated dysmorphic features. The disease is more frequent in Puerto Ricans and rare in Europe. A Sicilian family with four affected individuals in two interrelated sibships is reported.

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Year:  1991        PMID: 2070546     DOI: 10.1111/j.1399-0004.1991.tb03023.x

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


  3 in total

1.  Genetic variations in the ADAMTS12 gene are associated with schizophrenia in Puerto Rican patients of Spanish descent.

Authors:  Irina N Bespalova; Gary W Angelo; Ben P Ritter; Jason Hunter; Maria L Reyes-Rabanillo; Larry J Siever; Jeremy M Silverman
Journal:  Neuromolecular Med       Date:  2012-02-10       Impact factor: 3.843

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.  Airway abnormalities in Jarcho-Levin syndrome: a report of two cases.

Authors:  M Schulman; M T Gonzalez; M R Bye
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

  3 in total

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