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Updated: Jun 29, 2025

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

Published on: August 20, 2019

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在DOCK4中异体功能丧失变体会导致神经发育延迟和小头症

Charlotte Herbst1, Viktoria Bothe1, Meret Wegler1

  • 1Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.

Human genetics
|March 25, 2024
PubMed
概括

DOCK4基因中的遗传变异与一种新的神经发育障碍有关. 这种疾病的特点是发育迟缓,小头,以及受影响个体中神经元外生受损.

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