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Updated: Jan 12, 2026

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小说KIF11新临床特征的变体:扩大临床表现型

T Apuhan1, A Saglam Kubra1, M Yilmaz1

  • 1Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Balkan journal of medical genetics : BJMG
|November 7, 2025
PubMed
概括

单基KIF11变体会导致带有或没有胆色素变异,淋巴或智力发育障碍 (MCLMR) 综合征的小头. 这项研究揭示了极端的临床异质性和新发现,包括产前淋巴和骨突症,扩大了KIF11疾病谱.

关键词:
头骨突发症是什么 头骨突发症是什么在KIF11中,KIF11是KIF11,KIF11是KIF11.淋巴 edemema 淋巴 edemema 淋巴 edemema 淋巴 edemema 淋巴 edemema 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem 淋巴 edem微头症是一个微头症.小说变体 小说变体

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