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Article

Missense variant contribution to USP9X-female syndrome

9 Dec 2020

Abstract excerpt

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome. Here we provide...

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PMID: 33298948
DOI: 10.1038/s41525-020-00162-9

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