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CASE REPORT

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report

ORCID Icon, &
Pages 129-131 | Received 12 Dec 2023, Accepted 22 Mar 2024, Published online: 26 Mar 2024

References

  • Sumathipala DS, Mandawala EN, Sumanasena SP, et al. 17p112 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome. BMC Res Notes. 2015;8(1):506. doi:10.1186/s13104-015-1439-7
  • Ciaccio C, Pantaleoni C, Milani D, et al. Neurological phenotype of Potocki–Lupski syndrome. Am J Med Genet A. 2020;182(10):2317–2324. doi:10.1002/ajmg.a.61789
  • Praticò AD, Falsaperla R, Rizzo R, et al. New patient with Potocki-Lupski syndrome: a literature review. J Pediatr Genet. 2018;7(01):29–34. doi:10.1055/s-0037-1604479
  • Shuib S, Saaid NN, Zakaria Z, Ismail J, Abdul Latiff Z. Duplication 17p11. 2 (Potocki-Lupski Syndrome) in a child with developmental delay Malays. J Pathol. 2017;39:77–81.
  • Grama A, Sîrbe C, Miclea D, et al. Case report: Potocki-Lupski syndrome in five siblings. Front Pediatr. 2021;9:698629. doi:10.3389/fped.2021.698629
  • Potocki L, James R, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2007;1:e49.
  • Molina J, Carmona-Mora P, Chrast J, et al. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome (PDF). Hum Mol Genet. 2008;17(16):2486–2495. doi:10.1093/hmg/ddn148