Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S12-S13. 10.6065/apem.2244130.065.

A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism

Affiliations
  • 1Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea
  • 2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea


Reference

References

1. O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014; 5:5595.
2. Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, et al. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. Am J Med Genet C Semin Med Genet. 2019; 181:557–64.
3. Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am J Hum Genet. 2017; 100:725–36.
Article
4. Han JY, Jang JH, Park J, Lee IG. Targeted next-generation sequencing of korean patients with developmental delay and/or intellectual disability. Front Pediatr. 2018; 6:391.
Article
5. Ko JM. Genetic syndromes associated with overgrowth in childhood. Ann Pediatr Endocrinol Metab. 2013; 18:101–5.
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