Human Genetics
Research on human genetics published by scientists at Hadassah University
Published in Genetics and Environmental Health Week, March 11th, 2009
"The spondylo-meta-epiphyseal dysplasia [SMED] short limb-hand type [SMED-SL] is a rare autosomal-recessive disease, first reported by Borochowitz et al. in 1993.(1) Since then, 14 affected patients have been reported.(2-5) We diagnosed 6 patients from 5 different consanguineous Arab Muslim families from the Jerusalem area with SMED-SL. Additionally, we studied two patients from Algerian and Pakistani ancestry and the parents of the first Jewish patients reported.(1) Using a homozygosity mapping strategy, we located a candidate region on chromosome 1q23 spanning 2.4 Mb," scientists in Jerusalem, Israel report.
"The position of the Discoidin Domain Receptor 2 (DDR2) gene...
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