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Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome

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참고문헌 (10)

  1. Margueron R, "The polycomb complex PRC2 and its mark in life", Nature, 469, pp.343~349 (2011)
  2. Cyrus S, "PRC2-complex related dysfunction in overgrowth syndromes: a review of EZH2, EED, and SUZ12 and their syndromic phenotypes", Am J Med Genet C Semin Med Genet, 181, pp.519~531 (2019)
  3. Suri T, "The phenotype of EZH2 haploinsufficiency–1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability", Am J Med Genet A, 173, pp.2731~2735 (2017)
  4. Imagawa E, "Novel SUZ12 mutations in Weaver-like syndrome", Clin Genet, 94, pp.461~466 (2018)
  5. Imagawa E, "Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome", Hum Mutat, 38, pp.637~648 (2017)
  6. Cyrus SS, "Rare SUZ12 variants commonly cause an overgrowth phenotype", Am J Med Genet C Semin Med Genet, 181, pp.532~547 (2019)
  7. Schuettengruber B, "Genome regulation by polycomb and trithorax : 70 years and counting", Cell, 171, pp.34~57 (2017)
  8. Kehrer-Sawatzki H, "Atypical NF1 microdeletions: challenges and opportunities for genotype", phenotype correlations in patients with large NF1 deletions, 2021, pp.12, 1639~
  9. Pasmant E, "NF1 microdeletions in neurofibromatosis type 1 : from genotype to phenotype", Hum Mutat, 31, pp.E1506~18 (2010)
  10. "Genome Aggregation Database (gnomAD v2.1.1)" (2022)[URL]

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