vitamin D-dependent rickets type I

vitamin D-dependent rickets type I

Endocrinology An AR form of rickets Clinical Hypotonia, weakness, growth failure, hypocalcemic seizures in infancy Lab ↓ Ca2+, ↑ PTH, aminoaciduria. See Rickets.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I. Horm Res Paediatr 2016;85:309-317.
Cloning of human 25-hydroxyvitamin D- 1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type I. Mol Endocrinol 1997;11:1961-1970.
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