Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of theGALNT3Gene | Zendy

Shoji Ichikawa | Zendy; Erik A. Imel | Zendy; Andrea H. Sorenson | Zendy; Rebecca Severe | Zendy; Paul E. Knudson | Zendy; Gerald J. Harris | Zendy; Joseph Shaker | Zendy; Michael J. Econs | Zendy

Open Access

Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations in the Glycosyl Transferase Domain of theGALNT3Gene

Author(s) -

Shoji Ichikawa,

Erik A. Imel,

Andrea H. Sorenson,

Rebecca Severe,

Paul E. Knudson,

Gerald J. Harris,

Joseph Shaker,

Michael J. Econs

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1247

Subject(s) - fibroblast growth factor 23 , missense mutation , biology , hypercalciuria , adenine phosphoribosyltransferase , medicine , endocrinology , microbiology and biotechnology , biochemistry , mutation , gene , calcium , enzyme , parathyroid hormone , purine , urinary system

Familial tumoral calcinosis (TC) is a rare autosomal recessive disorder characterized by metastatic calcifications, often periarticular. Biochemical findings include hyperphosphatemia, high 1,25-dihydroxyvitamin D levels, and elevated tubular maximum for phosphate reabsorption per deciliter of glomerular filtrate (TmP/GFR). TC is caused by biallelic mutations of the genes encoding either fibroblast growth factor 23 (FGF23) or uridine diphosphate-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc transferase 3 or GALNT3).

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