Ontology highlight
ABSTRACT:
SUBMITTER: Lorenz-Depiereux B
PROVIDER: S-EPMC1380229 | biostudies-literature | 2006 Feb
REPOSITORIES: biostudies-literature
Lorenz-Depiereux Bettina B Benet-Pages Anna A Eckstein Gertrud G Tenenbaum-Rakover Yardena Y Wagenstaller Janine J Tiosano Dov D Gershoni-Baruch Ruth R Albers Norbert N Lichtner Peter P Schnabel Dirk D Hochberg Ze'ev Z Strom Tim M TM
American journal of human genetics 20051209 2
Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form that is characterized by reduced renal phosphate reabsorption, hypophosphatemia, and rickets. It can be distinguished from other forms of hypophosphatemia by increased serum levels of 1,25-dihydroxyvitamin D resulting in hypercalciuria. Using SNP array genotyping, we mapped the disease locus in two ...[more]