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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2015
Assuntos:
Case Report
Acesso em linha: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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