14
Jun
Parametric linkage analysis was performed using the CHST3 variant genotype, which resulted in a two-point LOD score of 10. 5 at =0. this family provides new insights into phenotypic spectrum ofCHST3alleles and disease progression with age. == Introduction == Genetic disorders that result in deficits of skeletal systems are collectively termed as skeletal dysplasias (SDs) or Osteochondrodysplasias. Their prevalence has been estimated to be 1: 5000 (1). However , in children with congenital birth defects, SD prevalence is approximately 5% (2). SD has been classified into 40 sub-groups primarily on the basis of clinical, molecular, biochemical and radiological findings (3).…