Hao-Fountain syndrome

Definition

Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. HAFOUS is caused by mutations in USP7 that encodes deubiquitinating enzyme.

References:

[1]. Michael D Fountain, et al. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genet Med. 2019 Aug;21(8):1797-1807. [Content Brief]

[2]. Yi-Heng Hao, et al. USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder. Mol Cell. 2015 Sep 17;59(6):956-69. [Content Brief]

生物医学辞典

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