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Updated: Jan 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

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神经发育障碍与精神运动延迟,听力损失和性,由复合异合体SPATA5L1变体扩展表型引起

Artur Polczyk1, Ewelina Wolańska2, Anna Zimny3

  • 1Medical Education and Simulation Laboratory, University Centre of Physiotherapy and Rehabilitation, Faculty of Physiotherapy, Wroclaw Medical University, 50-368 Wroclaw, Poland.

Journal of clinical medicine
|December 11, 2025
PubMed
概括

本病例报告详细介绍了一名患有SPATA5L1相关神经发育障碍的新患者,扩大了这种罕见疾病的已知范围. 早期,全面的评估对于有效诊断和管理这种疾病至关重要.

关键词:
这是SPATA5L1基因.脑性麻 脑性麻 是一种疾病.听力损失 听力损失是什么低血压症 (hypotonia) 是一种疾病.神经发育障碍 神经发育障碍物理治疗,物理治疗.精神运动障碍 精神运动障碍感应神经神经神经系统沃贾塔方法的方法.整体外基因组测序的测序

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