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关于两种RAB3GAP1病原体变异在华堡微症候群中的第一份临床报告

Nejmiye Akkuş1, Tuğba Akın Duman2

  • 1Department of Medical Genetics, Faculty of Medicine, Tokat Gaziosmanpasa University, Tokat, Türkiye.

Journal of pediatric genetics
|August 14, 2023
PubMed
概括

两个新的RAB3GAP1基因突变导致华堡微症候群 (WARBM),一种严重的遗传疾病,影响大脑和眼睛的发育. 这项研究在受影响患者中确定了与WARBM1综合征相关的新型变异.

关键词:
在 RAB3GAP1 中, RAB3GAP1 包含了 RAB3GAP1.华堡微型综合征是什么意思出生性白内障是因为先天性白内障微头症是一个微头症.微的世界 微

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