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Updated: May 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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陶文 - 罗宾特 - 费弗综合征:青少年患有细分过度生长和甲状腺癌的FIBP变体

Ulku Gul Siraz1, Deniz Koçak Göl2, Meino Rohlfs3

  • 1Department of Pediatric Endocrinology, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Journal of clinical research in pediatric endocrinology
|March 18, 2025
PubMed
概括

这项研究详细介绍了一个罕见的Thauvin-Robinet-Faivre综合征 (TROFAS) 病例,该病例发生在一个患有新型FIBP基因变异的16岁女孩身上. 这些发现扩大了这种过度生长综合征的已知的临床和瘤谱.

关键词:
癌症 癌症 癌症 癌症FGF-1细胞内结合蛋白 (FIBP) 基因过度生长综合征 过度生长综合征

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