Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations

Journal of Pediatrics

Volumn 163, Issue 4, 2013, Pages 1208-1210

  Castanet, Mireille ^a   Mallet, Eric ^a   Kottler, Marie Laure ^b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b CAEN UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CYP24A1 PROTEIN; CYTOCHROME; PARATHYROID HORMONE; UNCLASSIFIED DRUG; VITAMIN D;

ADULT; ALLELE; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; EXON; GENE MUTATION; GENOTYPE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; IDIOPATHIC DISEASE; IDIOPATHIC INFANTILE HYPERCALCEMIA; KIDNEY CALCIFICATION; MALE; PARATHYROID HORMONE BLOOD LEVEL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VITAMIN BLOOD LEVEL; VITAMIN SUPPLEMENTATION;

1,25(OH)2D; 1,25-DIHYDROXYVITAMIN D; IDIOPATHIC INFANTILE HYPERCALCEMIA; IIH; PARATHYROID HORMONE; PCR; POLYMERASE CHAIN REACTION; PTH;

ALLELES; DIETARY SUPPLEMENTS; DISEASES IN TWINS; EXONS; FEMALE; HOMOZYGOTE; HUMANS; HYPERCALCEMIA; INFANT; INFANT, NEWBORN, DISEASES; MALE; METABOLISM, INBORN ERRORS; MUTATION; PARATHYROID HORMONE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SIBLINGS; STEROID HYDROXYLASES; VITAMIN D;

EID: 84884619944     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.04.056     Document Type: Article

References (8)

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