Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of raine syndrome

Bone

Volumn 67, Issue , 2014, Pages 56-62

  Takeyari, Shinji ^a   Yamamoto, Takehisa ^a   Kinoshita, Yuka ^b   Fukumoto, Seiji ^b   Glorieux, Francis H ^c   Michigami, Toshimi ^d   Hasegawa, Kosei ^e   Kitaoka, Taichi ^f   Kubota, Takuo ^f   Imanishi, Yasuo ^g   Shimotsuji, Tsunesuke ^a   Ozono, Keiichi ^f  

^a Minoh City Hospital   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^c SHRINERS HOSPITAL FOR CHILDREN   (Canada)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e OKAYAMA UNIVERSITY HOSPITAL   (Japan)

^f OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cortical hyperostosis; FAM20C; FGF23; Hypophosphatemic rickets; Loss of teeth; OPLL

Indexed keywords

ALFACALCIDOL; CALCITRIOL; CYCLIC AMP; FIBROBLAST GROWTH FACTOR 23; OSTEOPONTIN; PARATHYROID HORMONE; PHOSPHATE; CASEIN KINASE I; FAM20C PROTEIN, HUMAN; SCLEROPROTEIN;

ADULT; ARTICLE; BONE BIOPSY; BONE DEMINERALIZATION; BONE DENSITY; BONE DYSPLASIA; BONE RADIOGRAPHY; BRAIN CALCIFICATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DRUG WITHDRAWAL; DUAL ENERGY X RAY ABSORPTIOMETRY; ENZYME ACTIVITY; ENZYME RELEASE; FAM20C GENE; FEMUR NECK; GENE; GENE MUTATION; GENETIC SCREENING; HEK293 CELL LINE; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATEMIA; HYPOPHOSPHATEMIC RICKETS; KIDNEY CALCIFICATION; KIDNEY DYSFUNCTION; LONG BONE; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTANT; OSSIFICATION; OSTEOCYTE; OSTEOSCLEROSIS; PERIOSTEUM; POSTERIOR LONGITUDINAL LIGAMENT; RAINE SYNDROME; SHORT STATURE; TOOTH DISEASE; WESTERN BLOTTING; X LINKED HYPOPHOSPHATEMIC RICKETS; CLEFT PALATE; COMPLICATION; EXOPHTHALMOS; GENETICS; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MUTATION; OSTEOMALACIA; SCLEROSIS;

ABNORMALITIES, MULTIPLE; CASEIN KINASE I; CLEFT PALATE; EXOPHTHALMOS; EXTRACELLULAR MATRIX PROTEINS; HUMANS; HYPOPHOSPHATEMIA; MALE; MICROCEPHALY; MIDDLE AGED; MUTATION; OSTEOMALACIA; OSTEOSCLEROSIS; SCLEROSIS;

EID: 84904459674     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2014.06.026     Document Type: Article

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