,KMT2D

Allison J Kalinousky1, Teresa R Luperchio1, Katrina M Schrode2

  • 1McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

Genes
|January 23, 2024
PubMed
概括

卡布基综合征1型 (KS1) 导致儿童的感觉神经听力损失,通常从7岁左右开始. 鼠标模型揭示了外皮毛细胞功能障碍,这表明KMT2D基因突变有助于除了感染或结构问题之外的听力损伤.

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