We have achieved 3 major accomplishments.1) determined the frequency of major neurological & respiratory complications, established guidelines for the anti cipatory care of young children, based on the correlations between lab findings & clinical observations. 2) significant contributions to the identification of the gene by linkage mapping of the achondroplasia locus 3) established the frequency of the two most common mutations in FGFR3 in a large population (154 patients).
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