Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

Journal of Bone and Mineral Research

Volumn 28, Issue 6, 2013, Pages 1378-1385

  Rafaelsen, Silje Hjorth ^a,b   Ræder, Helge ^a,b   Fagerheim, Anne Kristine ^c   Knappskog, Per ^a,b   Carpenter, Thomas O ^d   Johansson, Stefan ^a,b   Bjerknes, Robert ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c Department of Neurology   (Norway)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

EXOME SEQUENCING; FAM20C; FAMILIAL HYPOPHOSPHATEMIA; FGF23; RAINE SYNDROME

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; PHOSPHATE; PROTEIN; PROTEIN FAM 20C; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; CASE REPORT; EXOME; FACE DYSMORPHIA; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENE SEQUENCE; GENOTYPE; HUMAN; HYPERPHOSPHATURIA; LONG BONE; MALE; MISSENSE MUTATION; OSTEOSCLEROSIS; PHOSPHATE URINE LEVEL; RICKETS; TOOTH MALFORMATION; URINARY EXCRETION; URINE COMPOSITION DISORDER;

ADOLESCENT; ADULT; CALCINOSIS; DNA MUTATIONAL ANALYSIS; EXOME; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FIBROBLAST GROWTH FACTORS; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MALE; MUTATION; NORWAY; OSTEOSCLEROSIS; TOOTH ABNORMALITIES;

EID: 84878219688     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1850     Document Type: Article

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