An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

Journal of Bone and Mineral Metabolism

Volumn 28, Issue 1, 2010, Pages 111-115

  Gribaa, Moez ^a   Younes, Mohamed ^b   Bouyacoub, Yosra ^a   Korbaa, Wided ^b   Ben Charfeddine, Ilhem ^a   Touzi, Mongi ^b   Adala, Labiba ^a   Mamay, Ons ^a   Bergaoui, Naceur ^b   Saad, Ali ^a  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b FATTOUMA BOURGUIBA UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

Autosomal dominant hypophosphatemic rickets; Cleavage domain; FGF23 gene; Mutation analysis; Osteomalacia

Indexed keywords

CALCITRIOL; CALCIUM; CYTOSINE; FIBROBLAST GROWTH FACTOR 23; PHOSPHATE; THYMIDINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; BONE DENSITY; BONE MALFORMATION; BONE MINERALIZATION; CASE REPORT; CONSENSUS SEQUENCE; DUAL ENERGY X RAY ABSORPTIOMETRY; FATIGUE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATEMIA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OSTEOMALACIA; OSTEOPOROSIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; TUNISIA;

CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FIBROBLAST GROWTH FACTORS; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN INTERACTION DOMAINS AND MOTIFS; TUNISIA;

EID: 76949095921     PISSN: 09148779     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00774-009-0111-5     Document Type: Article

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