LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: Hereditary Multiple Exostoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.010 GeneticVariation disease BEFREE Here we describe a familial case of osteopoikilosis in which a novel heterozygous LEMD3 mutation coincides with a novel mutation in EXT1, a gene involved in aetiology of multiple exostosis syndrome. 20618940 2010