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. 2021 Jul;185(7):2234-2237.
doi: 10.1002/ajmg.a.62189. Epub 2021 Mar 31.

A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

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A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

Doga Turkkahraman et al. Am J Med Genet A. 2021 Jul.
No abstract available

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References

REFERENCES

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    1. Cyrus, S., Burkhardt, D., Weaver, D. D., & Gibson, W. T. (2019). PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. American Journal of Medical Genetics, 181, 519-531.
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    1. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., et al. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17, 405-424.
    1. Tatton-Brown, K., & Rahman, N. (2013). EZH2-related overgrowth. 2013 Jul 18 [updated 2018 Aug 2]. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, B. LJH, K. Stephens, & A. Amemiya (Eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2020.

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