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• Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.

  Li Q, Sun C, Yang L, Lu W, Luo F. Li Q, et al. Transl Pediatr. 2021 Apr;10(4):834-842. doi: 10.21037/tp-20-385. Transl Pediatr. 2021. PMID: 34012832 Free PMC article.
• KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

  Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH. Choi Y, et al. Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23. Mol Genet Genomic Med. 2023. PMID: 36564961 Free PMC article. Review.
• Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.

  Zhang T, Yang Y, Yin X, Wang X, Ni J, Dong Z, Li C, Lu W. Zhang T, et al. Am J Med Genet A. 2021 Mar;185(3):710-718. doi: 10.1002/ajmg.a.62024. Epub 2020 Dec 22. Am J Med Genet A. 2021. PMID: 33354850 Free PMC article.
• Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

  Carrara A, Mangiarotti C, Pasca L, Politano D, Abrusco FD', Barbero VC, Carpani A, Borgatti R, Pichiecchio A, Valente EM, Romaniello R. Carrara A, et al. Cerebellum. 2024 Aug;23(4):1736-1740. doi: 10.1007/s12311-024-01661-6. Epub 2024 Feb 9. Cerebellum. 2024. PMID: 38334877 Free PMC article.
• Clinical and genetic aspects of KBG syndrome.

  Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, Fisher R, Flinter F, Foulds N, Fryer A, Gibson K, Hayes I, Hills A, Holder S, Irving M, Joss S, Kivuva E, Lachlan K, Magee A, McConnell V, McEntagart M, Metcalfe K, Montgomery T, Newbury-Ecob R, Stewart F, Turnpenny P, Vogt J, Fitzpatrick D, Williams M; DDD Study; Smithson S. Low K, et al. Am J Med Genet A. 2016 Nov;170(11):2835-2846. doi: 10.1002/ajmg.a.37842. Epub 2016 Sep 26. Am J Med Genet A. 2016. PMID: 27667800 Free PMC article.