Associated Papers
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.
Collinson M et al.
American Journal of Medical Genetics. Part A, 2010
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Couvineau A et al.
Human Molecular Genetics, 2008
Select a paper to view details