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Updated: Sep 13, 2025

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一个新的病例将体质NRAS变体与脑皮皮质脂质病症联系起来

Omar Azrak1, Sheng-Che Hung1, Nathaniel G Wooten2

  • 1Department of Radiology, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

American journal of medical genetics. Part A
|August 1, 2025
PubMed
概括

脑皮皮质脂质症 (ECCL) 是一种罕见的疾病,与RAS-MAPK通路基因突变有关. 本报告详细介绍了第二个NRAS突变病例,强调了ECCL中的临床和神经放射学发现.

关键词:
它们是NRAS和NRAS.拉索病症是一种RAS病症.大脑MRI脑部MRI脑部脑皮皮肤性脂质变质症 (Encephalocraniocutaneous lipomatosis) 是一种引起脑皮质变质的疾病.内脂肪瘤是什么意思眼睛外皮综合征是什么脂质神经的 脂肪神经

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