Absence of mutation in coding regions of cyp2r1 Gene in apparent autosomal dominant vitamin d 25-hydroxylase deficiency rickets

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 5, 2012, Pages

  Tosson, Hanan ^a   Rose, Susan R ^b  

^a Pediatric Endocrinology Clinic   (United States)

^b UNIVERSITY OF CINCINNATI   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1,25 DIHYDROXYERGOCALCIFEROL; 25 HYDROXYLASE; 25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE; CALCIUM; CALCIUM ION; ERGOCALCIFEROL; GENOMIC DNA; MAGNESIUM; OSTEOCALCIN; OXYGENASE; PARATHYROID HORMONE; PHOSPHATE; UNCLASSIFIED DRUG;

24 HYDROXYLASE ENZYME DEFICIENCY; ARTICLE; AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; AUTOSOMAL RECESSIVE DISORDER; BALANCE IMPAIRMENT; CASE REPORT; CHILD; DISEASE TRANSMISSION; DNA SEQUENCE; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; ENDURANCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAIT DISORDER; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HYPERCALCIURIA; INFANT; KIDNEY CALCIFICATION; MALE; MOTOR DYSFUNCTION; NUCLEOTIDE SEQUENCE; PELVIC GIRDLE; PHYSIOTHERAPY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RANGE OF MOTION; RICKETS; STRENGTH; TRUNK;

CHILD, PRESCHOOL; CYTOCHROME P-450 CYP27A1; GENETIC TESTING; HUMANS; MALE; MUTATION; RICKETS; VITAMIN D; VITAMIN D DEFICIENCY;

EID: 84860754118     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2716     Document Type: Article

References (13)

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