Autosomal dominant hypophosphatemic rickets in an 85 year old woman: Characterization of her disease from infancy through adulthood

Bone

Volumn 52, Issue 2, 2013, Pages 640-643

  Seton, Margaret ^a   Jüppner, Harald ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Autosomal dominant hypophosphatemic rickets; Fibroblast growth factor 23 (FGF23); Metabolic bone disease; Osteomalacia; Renal phosphate wasting

Indexed keywords

FIBROBLAST GROWTH FACTOR 23;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; BONE PAIN; CASE REPORT; DISEASE ACTIVITY; FEMALE; FIBROBLAST GROWTH FACTOR 23 GENE; FOLLOW UP; GENETIC ASSOCIATION; GERM LINE; HETEROZYGOSITY; HUMAN; MEDICAL HISTORY; MUTATIONAL ANALYSIS; MUTATOR GENE; OSTEOMALACIA; STUNTING;

ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; BODY HEIGHT; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; FIBROBLAST GROWTH FACTORS; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 84870769741     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.11.012     Document Type: Article

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