Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification - Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine; Knappskog, Per; Carpenter, Thomas O; Johansson, Stefan; Bjerknes, Robert (Journal of bone and mineral research, 2013)
Keywords: Adolescent; Adult; Calcinosis - genetics; Calcinosis - metabolism; Calcinosis - pathology; Casein Kinase I; Cellular biology; DNA Mutational Analysis; Exome; EXOME SEQUENCING; Extracellular Matrix Proteins - genetics; Extracellular Matrix Proteins - metabolism; FAM20C; FAMILIAL HYPOPHOSPHATEMIA; Female; FGF23; Fibroblast Growth Factors - genetics; Fibroblast Growth Factors - metabolism; Humans; Hypophosphatemia, Familial - genetics; Hypophosphatemia, Familial - metabolism; Hypophosphatemia, Familial - pathology; Male; Medical research; Mutation; Norway; Osteosclerosis - genetics; Osteosclerosis - metabolism; Osteosclerosis - pathology; RAINE SYNDROME; Tooth Abnormalities - genetics; Tooth Abnormalities - metabolism; Tooth Abnormalities - pathology; Norway