A NOVEL INSERTION MUTATION IN THE CARTILAGE-DERIVED MORPHOGENETIC PROTEIN-1 (CDMP1) GENE UNDERLIES GREBE-TYPE CHONDRODYSPLASIA IN A CONSANGUINEOUS PAKISTANI FAMILY

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

Abstract Background Grebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb shortness with non-functional knob like fingers resembling toes.Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene cause Grebe-type chondrodysplasia.Methods Genotyping of six members of a Pakis

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