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. 2020 Mar;182(3):595-596.
doi: 10.1002/ajmg.a.61443. Epub 2019 Dec 8.

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Raymond J Louie  1 , Michael J Friez  1 , Cindy Skinner  1 , Michael Baraitser  2 , Robin D Clark  3 , Charles E Schwartz  1 , Roger E Stevenson  1
Affiliations

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

Raymond J Louie et al. Am J Med Genet A. 2020 Mar.
No abstract available

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References

REFERENCES

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    1. Bramswig, N. C., Lüdecke, H. -. J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., … Wieczored, D. (2017). Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Human Genetics, 136, 179-192. https://doi.org/10.1007/s00439-016-1743-x
    1. Clark, R. D., & Baraitser, M. (1987). A new X-linked mental retardation syndrome. American Journal of Medical Genetics, 26, 13-15. https://doi.org/10.1002/ajmg.1320260104
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