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Case Reports
. 2023 Sep;63(5):174-175.
doi: 10.1111/cga.12532. Epub 2023 Jul 30.

Long-term clinical course of Heyn-Sproul-Jackson syndrome

Affiliations
Case Reports

Long-term clinical course of Heyn-Sproul-Jackson syndrome

Hiroshi Futagawa et al. Congenit Anom (Kyoto). 2023 Sep.
No abstract available

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References

REFERENCES

    1. Heyn P, Logan CV, Fluteau A, et al. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. Nat Genet. 2019;51(1):96-105.
    1. Tatton-Brown K, Zachariou A, Loveday C, et al. The Tatton-Brown-Rahman syndrome: a clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res. 2018;3:46.
    1. Kim GH, Kim J, Lee J, Jang DH. A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome. Front Pediatr. 2023;11:1165638.
    1. Weinberg DN, Papillon-Cavanagh S, Chen H, et al. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape. Nature. 2019;573(7773):281-286.
    1. Rondelet G, Dal Maso T, Willems L, Wouters J. Structural basis for recognition of histone H3K36me3 nucleosome by human de novo DNA methyltransferases 3A and 3B. J Struct Biol. 2016;194(3):357-367.

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