Large deletions and duplications in the COL2A1gene by MLPA

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Ref: LV3622 Categories: , , , , , , , , , , Diseases: Achondrogenesis, type II or hypochondrogenesis,Avascular necrosis of the femoral head,Czech dysplasia,Epiphyseal dysplasia, multiple, with myopia and deafness,Kniest dysplasia,Legg-Calve-Perthes disease,Osteoarthritis with mild chondrodysplasia,Platyspondylic skeletal dysplasia, Torrance type,SED congenita,SMED Strudwick type,Spondyloperipheral dysplasia,Stickler sydrome, type I, nonsyndromic ocular,Stickler type I Syndrome (achondrogenesis type I)Genes: COL2A1Delivery term: 35 days