A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

Osteoporosis International

Volumn 20, Issue 7, 2009, Pages 1273-1278

  Dumitrescu, C E ^a   Kelly, M H ^a   Khosravi, A ^a,b   Hart, T C ^a   Brahim, J ^a   White, K E ^c   Farrow, E G ^c   Nathan, M H ^d   Murphey, M D ^e   Collins, M T ^a  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c INDIANA UNIVERSITY   (United States)

^d UNIVERSITY OF VERMONT   (United States)

^e ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

Author keywords

Dental; FGF23; GALNT3; KLOTHO; Phosphorus; Vitamin D

Indexed keywords

ACETAZOLAMIDE; CALCITRIOL; FIBROBLAST GROWTH FACTOR 23; KLOTHO PROTEIN; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 3; NICOTINAMIDE; PHOSPHATE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CALCINOSIS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; CORTICAL BONE; DNA SEQUENCE; FAMILIAL TUMORAL CALCINOSIS HYPEROSTOSIS HYPERPHOSPHATEMIA SYNDROME; FEMALE; FGF23 GENE; GALNT3 GENE; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPEROSTOSIS; HYPERPHOSPHATEMIA; LARYNX CARTILAGE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SOFT TISSUE CALCIFICATION; TOOTH RADIOGRAPHY; VERTEBRA MALFORMATION;

ACETAZOLAMIDE; ADULT; CALCINOSIS; CHILD; DIURETICS; FEMALE; FIBROBLAST GROWTH FACTORS; HETEROZYGOTE; HIP JOINT; HUMANS; HYPEROSTOSIS; HYPERPHOSPHATEMIA; N-ACETYLGALACTOSAMINYLTRANSFERASES; NIACINAMIDE; PHOSPHATES; VITAMIN B COMPLEX; YOUNG ADULT;

EID: 67349239355     PISSN: 0937941X     EISSN: 14332965     Source Type: Journal    
DOI: 10.1007/s00198-008-0775-z     Document Type: Article

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