Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 2, 2012, Pages

  Dauber, Andrew ^a,b,d   Nguyen, Thutrang T ^a,d   Sochett, Etienne ^e,f   Cole, David E C ^f   Horst, Ronald ^g   Abrams, Steven A ^h   Carpenter, Thomas O ⁱ   Hirschhorn, Joel N ^a,c,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

^g Heartland Assays Inc   (United States)

^h BAYLOR COLLEGE OF MEDICINE   (United States)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

24,25 DIHYDROXYVITAMIN D; 25 HYDROXYVITAMIN D; CALCIUM; CALCIUM CARBONATE; OXYGENASE; UNCLASSIFIED DRUG; VITAMIN D 24 HYDROXYLASE;

ARTICLE; CALCIUM ABSORPTION; CASE REPORT; CHILD; CONSANGUINITY; CYP24A1 GENE; DISEASE SEVERITY; EXOME; FOLLOW UP; GENE; GENE DELETION; GENE FUNCTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; IDIOPATHIC DISEASE; IN VIVO STUDY; INFANTILE HYPERCALCEMIA; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD;

AGE OF ONSET; BASE SEQUENCE; CALCIUM; CONSANGUINITY; FOLLOW-UP STUDIES; HUMANS; HYPERCALCEMIA; INFANT; INTESTINAL ABSORPTION; MALE; PEDIGREE; SEVERITY OF ILLNESS INDEX; STEROID HYDROXYLASES;

EID: 84856778061     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-1972     Document Type: Article

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