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. 2022 Feb;188(2):672-675.
doi: 10.1002/ajmg.a.62555. Epub 2021 Nov 4.

Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases

Nikki Fong  1 , Heming Wei  2 , Jiin Ying Lim  1 , Chew-Yin Jasmine Goh  3 , Sylvia Kam  1 , Saumya Shekhar Jamuar  1   4 , Ene-Choo Tan  2   4
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Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases

Nikki Fong et al. Am J Med Genet A. 2022 Feb.
No abstract available

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References

REFERENCES

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    1. Homan, C. C., Kumar, R., Nguyen, L. S., Haan, E., Raymond, F. L., Abidi, F., Raynaud, M., Schwartz, C. E., Wood, S. A., Gecz, J., & Jolly, L. A. (2014). Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. American Journal of Human Genetics, 94, 470-478.
    1. Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Van Allen, M., Grønborg, S., Mercier, S., … Gahl, W. (2020). Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor beta signaling. Biological Psychiatry, 87, 100-112.
    1. Meira, J. G. C., Magalhães, B. S., Ferreira, I. B. B., Tavares, D. F., Kobayashi, G. S., & Leão, E. (2021). Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review. American Journal of Medical Genetics Part A, 185, 1569-1574.
    1. Murtaza, M., Jolly, L. A., Gecz, J., & Wood, S. A. (2015). La FAM fatale: USP9X in development and disease. Cellular and Molecular Life Sciences, 72, 2075-2089.

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