Genetics of hypophosphosphatemia;Génétique des hypophosphatémies

Archives de Pediatrie

Volumn 13, Issue 6, 2006, Pages 522-524

  Salles, J P ^a  

^a HÔPITAL DES ENFANTS   (France)

Author keywords

FGF 23; Hypophosphatemia; Phosphate

Indexed keywords

FIBROBLAST GROWTH FACTOR 23;

GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYDROPHOBICITY; HYPOPHOSPHATEMIA; LETTER; PHENOTYPE;

CHILD; CHROMOSOME ABERRATIONS; DNA MUTATIONAL ANALYSIS; FIBROBLAST GROWTH FACTORS; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; PARATHYROID HORMONE; PHOSPHATES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; VITAMIN D;

EID: 33646926791     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2006.03.111     Document Type: Letter

References (10)

1. Dunstan C.R., Zhou H., and Seibel M.J. Fibroblast growth factor 23: a phosphatonin regulating phosphate homeostasis. Endocrinology 145 (2004) 3084-3086
2. Salles J.P., Moulin P., Briand-Mésange F., et al. FGF 23 et phosphatémie. Immunoanalyse et Biologie spécialisée 20 (2005) 136-143
3. The ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF 23. Nat. Genet. 26 (2000) 345-348
4. Riminucci M., Collins M.T., Fedarko N.S., et al. FGF 23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J. Clin. Invest. 112 (2003) 683-692
5. The H.Y.P. Consortium. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat. Genet. 11 (1995) 130-136
6. Shimada T., Hasegawa H., Yamazaki Y., et al. FGF 23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J. Bone Miner. Res. 19 (2004) 429-435
7. Shimada T., Kakitani M., Yamazaki Y., et al. Targeted ablation of FGF 23 demonstrates an essential physiological role of FGF 23 in phosphate and vitamin D metabolism. J. Clin. Invest. 113 (2004) 561-568
8. Gupta A., Winer K., Econs M.J., et al. FGF 23 is elevated by chronic hyperphosphatemia. J. Clin. Endocrinol. Metab. 89 (2004) 4489-4492
9. Ward L.M., Rauch F., White K.E., et al. Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF 23 producing tumour of the distal ulna. Bone 34 (2004) 905-911
10. Benet-Pages A., Orlik P., Strom T.M., et al. An FGF 23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum. Mol. Genet. 14 (2005) 385-390