Juvenile Paget's disease: The second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

Journal of Bone and Mineral Research

Volumn 22, Issue 6, 2007, Pages 938-946

  Whyte, Michael P ^a,b   Singhellakis, Panagiotis N ^c   Petersen, Michael B ^d   Davies, Michael ^e   Totty, William G ^f   Mumm, Steven ^a,b  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b BARNES JEWISH HOSPITAL   (United States)

^c UNIVERSITY OF ATHENS   (Greece)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alkaline phosphatase; Bisphosphonate; Blindness; Calcitonin; Deafness; Dimerization; Hyperphosphatasia; Nephrolithiasis; NF B; Osteoclast; Pseudoxanthoma elasticum; RANK; RANKL; Retinopathy; TNF

Indexed keywords

ADENINE; ALENDRONIC ACID; ALFACALCIDOL; AMINO ACID; ATENOLOL; CALCITONIN; CALCIUM; CYSTEINE; CYTOSINE; ETIDRONIC ACID; GUANINE; HOMODIMER; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA; MONOMER; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; PAMIDRONIC ACID; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; RISEDRONIC ACID; THYMINE; ALKALINE PHOSPHATASE; BISPHOSPHONIC ACID DERIVATIVE; TNFRSF11B PROTEIN, HUMAN; TNFSF11 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE PAIN; BONE TURNOVER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; DIMERIZATION; DISEASE COURSE; DRUG RESPONSE; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FRACTURE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; HEARING IMPAIRMENT; HOMOZYGOTE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; IMMUNOREACTIVITY; JUVENILE PAGET BONE DISEASE; MALE; NEPHROLITHIASIS; OSTEOCLAST; PAGET BONE DISEASE; PROTEIN BLOOD LEVEL; PSEUDOXANTHOMA ELASTICUM; RETINOPATHY; SECONDARY HYPERPARATHYROIDISM; SEQUENCE ANALYSIS; SYMPTOM; TNFRSF11B GENE; BLOOD; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE;

ALKALINE PHOSPHATASE; CALCITONIN; DIPHOSPHONATES; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; OSTEITIS DEFORMANS; OSTEOPROTEGERIN; RANK LIGAND;

EID: 34548253518     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.070307     Document Type: Article

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