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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628953/ https://www.ncbi.nlm.nih.gov/pubmed/26568659 http://dx.doi.org/10.1297/cpe.24.185 |
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