An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene

A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his materna...

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Bibliographic Details
Published in:Clin Pediatr Endocrinol
Main Authors: Takeuchi, Takako, Yoto, Yuko, Tsugawa, Takeshi, Kamasaki, Hotaka, Kondo, Atsushi, Ogino, Jiro, Hasegawa, Tadashi, Yama, Naoya, Anan, Sawa, Uchino, Shinya, Ishikawa, Aki, Sakurai, Akihiro, Tsutsumi, Hiroyuki
Format: Artigo
Language:Inglês
Published: The Japanese Society for Pediatric Endocrinology 2015
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4628953/
https://ncbi.nlm.nih.gov/pubmed/26568659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.24.185
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