Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 120A, Issue 4, Pages 490-497Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.20034
Keywords
skeletal dysplasia; EDM5
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In this study, we followed-up the family with bilateral hereditary micro-epiphyseal dysplasia (BHMED) originally described by Elsbach [1959: J Bone Joint Surg [Br] 41B:514-523]. Clinical re-examination of all available family members resulted in further delineation of the clinical and radiological phenotype, which is distinct from common multiple epiphyseal dysplasia (MED). Linkage analysis excluded EDM1, EDM2, and EDM3 as candidate genes. Linkage and mutation analysis of matrilin-3 (MATN-3) revealed a new pathogenic mutation confirming that BHMED is indeed a distinct disease entity among MED and MED-like disorders. (C) 2003 Wiley-Liss, Inc.
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