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Project: Gene identification and study of genotype-phenotype correlations in genetic disorders of the skeleton

01-JAN-03 – 31-DEC-06

Abstract
This project has two major goals: 1) study of the genotypic and phenotypic complexity in Stickler dysplasia. Analysis of the factors that determine the intrafamilial variability, especially concerning the occurrence of cleft palate 2) Identification of the genetic defect in an autosomal recessive skeletal dysplasia characterized by disproportionate short stature and cone-shaped epiphyses in hands and hips