Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications

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...

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Main Authors: Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2009
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668047/
https://ncbi.nlm.nih.gov/pubmed/19110212
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.004
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