التفاصيل البيبلوغرافية
| العنوان: |
An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene. |
| المؤلفون: |
Takako Takeuchi, Yuko Yoto, Takeshi Tsugawa, Hotaka Kamasaki, Atsushi Kondo, Jiro Ogino, Tadashi Hasegawa, Naoya Yama, Sawa Anan, Shinya Uchino, Aki Ishikawa, Akihiro Sakurai, Hiroyuki Tsutsumi |
| المصدر: |
Clinical Pediatric Endocrinology; Oct2015, Vol. 24 Issue 4, p185-189, 5p, 3 Color Photographs, 1 Diagram |
| مصطلحات موضوعية: |
THYROID gland tumors, GERM cells, HYPERCALCEMIA, GENETIC mutation, GENETICS |
| مستخلص: |
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 maternal aunt and grandmother both had histories of parathyroid tumors, genetic investigation was undertaken for him, and a germline frameshift mutation of the CDC73 gene was identified. CDC73 gene analysis should be done on individuals who are at risk of familial hyperparathyroidism, including those who are asymptomatic, and they should be followed for potential primary hyperparathyroidism and associated disorders including resultant parathyroid carcinoma. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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