Condition: Osteoglophonic dwarfism
rs121909631
in
FGFR1
gene and
Osteoglophonic dwarfism
PMID 15625620
2005 Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
PMID 16470795
2006 Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.