Condition: Hypochondroplasia (disorder)
rs121913116
in
FGFR3
gene and
Hypochondroplasia (disorder)
PMID 16912704
2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
PMID 26380986
2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.