Associated Papers
A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.
Tian W et al.
Molecular Genetics & Genomic Medicine, 2024
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Tripolszki K et al.
Clinical Genetics, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Beck DB et al.
Science Advances, 2021
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Saida K et al.
Frontiers in Cell and Developmental Biology, 2021
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