Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 11, 2006, Pages 4472-4475

  Ichikawa, Shoji ^a   Imel, Erik A ^a   Sorenson, Andrea H ^a   Severe, Rebecca ^b   Knudson, Paul ^b   Harris, Gerald J ^c   Shaker, Joseph L ^d   Econs, Michael J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c EYE INSTITUTE   (United States)

^d ST LUKE S MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; CALCITRIOL; CALCIUM; CREATININE; FIBROBLAST GROWTH FACTOR 23; GLYCOSYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE; N ACETYLGALACTOSAMINYLTRANSFERASE 3; PARATHYROID HORMONE; UNCLASSIFIED DRUG;

ADULT; ANAMNESIS; ARTICLE; CALCIUM BLOOD LEVEL; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; EYELID BIOPSY; EYELID DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; PARATHYROID HORMONE BLOOD LEVEL; PHOSPHATE BLOOD LEVEL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TUMOR CALCINOSIS; VITAMIN BLOOD LEVEL;

EID: 33751533213     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-1247     Document Type: Article

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