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Updated: Jun 15, 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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破坏ERF与激活ERK1/2相互作用的异合变体会导致小头症,发育迟缓和骨异常

Lucia Micale1, Aikaterini Vourlia2,3, Carmela Fusco4

  • 1Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Italy. l.micale@operapadrepio.it.

European journal of human genetics : EJHG
|December 12, 2024
PubMed
概括

新的研究确定了ETS2抑制因子 (ERF) 基因的突变,特别影响FSF动机,导致MIDES综合征. 这种情况涉及小头症,发育迟缓和骨异常,原因是ERF-ERK相互作用受损.

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