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Updated: Jun 19, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

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Published on: September 20, 2016

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在患有MEN4和骨髓性甲状腺癌的患者中,CDKN1B的新型可能致病性生殖系变异

Fernández Mercè1,2, Queralt Asla3,4, Francisco J Illana5

  • 1Department of Endocrinology and Nutrition, Institut de Recerca Sant Pau (IR SANTPAU), Endo-ERN. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. mfmiro79@gmail.com.

Familial cancer
|February 26, 2025
PubMed
概括

多发性内分泌新陈代谢4型 (MEN4) 与CDKN1B基因变异有关. 这一案例突出了一个新的CDKN1B变异,导致MEN4和髓性甲状腺癌,强调对罕见内分泌疾病的基因测试.

关键词:
这种变异是CDKN1B变异.骨髓甲状腺癌是一种甲状腺癌.多重内分泌瘤4型4型多重内分泌瘤p27Kip1 在线阅读

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