Article
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis.
Bone - 1 Mar 2015
Sgariglia Federica, Pedrini Elena, Bradfield Jonathan P, Bhatti Tricia R, D'Adamo Pio, Dormans John P, Gunawardena Aruni T, Hakonarson Hakon, Hecht Jacqueline T, Sangiorgi Luca, Pacifici Maurizio, Enomoto-Iwamoto Motomi, Grant Struan F A
Abstract excerpt
Hereditary Multiple Exostoses (HME) is an autosomal-dominant disorder characterized by benign cartilage tumors (exostoses) forming near the growth plates, leading to severe health problems. EXT1 and EXT2 are the two genes known to harbor heterozygous loss-of-function mutations that account for th...
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