hereditary hypophosphatemic rickets


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hereditary hypophosphatemic rickets

[hə′red·ə‚ter·ē ¦hī·pō‚fäs·fə¦tē·mik ′rik·əts]
(medicine)
Sex-linked syndrome involving defective bone growth and decreased concentrations of phosphates in the serum.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Hereditary hypophosphatemic rickets with hypercalciuria is a very rare inheritable hypophosphatemic rickets/osteomalacia.
Loss of function in the third member of the sodium phosphate cotransporter family type II (NaPi-IIc/NPT2c) which is encoded by the SLC34A3 gene causes hereditary hypophosphatemic rickets with hypercalciuria (HHRH) (1).
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
Genetic Causes of Rickets
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