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Review
. 2019 Dec;179(12):2506-2509.
doi: 10.1002/ajmg.a.61356. Epub 2019 Sep 11.

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Tomoko Uehara  1 , Takatoshi Tsuchihashi  2 , Mamiko Yamada  1 , Hisato Suzuki  1 , Toshiki Takenouchi  3 , Kenjiro Kosaki  1
Affiliations
Review

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Tomoko Uehara et al. Am J Med Genet A. 2019 Dec.
No abstract available

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References

REFERENCES

    1. Alesi, V., Loddo, S., Cali, F., Orlando, V., Genovese, S., Ferretti, D., … Novelli, A. (2019). A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. American Journal of Medical Genetics Part A., 179(8), 1615-1621. https://doi.org/10.1002/ajmg.a.61217
    1. Alesi, V., Loddo, S., Grispo, M., Riccio, S., Montella, A. C., Dallapiccola, B., … Novelli, A. (2017). Reassessment of the 12q15 deletion syndrome critical region. European Journal of Medical Genetics, 60(4), 220-223. https://doi.org/10.1016/j.ejmg.2017.01.009
    1. Ito, K., Inoue, T., Yokoyama, K., Morita, M., Suzuki, T., & Yamamoto, T. (2011). CNOT2 depletion disrupts and inhibits the CCR4-NOT deadenylase complex and induces apoptotic cell death. Genes to Cells, 16(4), 368-379. https://doi.org/10.1111/j.1365-2443.2011.01492.x
    1. Kruszka, P., Berger, S. I., Weiss, K., Everson, J. L., Martinez, A. F., Hong, S., … Muenke, M. (2019). A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with Holoprosencephaly. American Journal of Human Genetics, 104(5), 990-993. https://doi.org/10.1016/j.ajhg.2019.03.017
    1. Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., … Exome Aggregation, C. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285-291. https://doi.org/10.1038/nature19057

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