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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities - Journal of Human Genetics

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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities - Journal of Human Genetics

Ubiquitin-specific protease 8 (USP8) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal growth factor receptor for escape from degradation. Somatic variants at a hotspot in USP8 are a cause of Cushing's disease, and a de novo germline USP8 variant at this hotspot has been described only once previously, in a girl with Cushing's disease and developmental delay.

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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities - Journal of Human Genetics

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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities - Journal of Human Genetics

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