Condition: CATSHL syndrome
rs121913113 in
FGFR3 gene and
CATSHL syndrome
PMID 17033969 2006 A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.
PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.