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Research and Reports in Neonatology Volume 10, 2020 - Issue
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Case Report

Perlman Syndrome with Deletion of DIS3L2 Gene

Khalil Salameh1 Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, QatarCorrespondence[email protected]
,
Brijroy Viswanathan1 Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar
,
Zafar Nawaz2 Department of Cytogenetics and Molecular Cytogenetics Laboratory, Hamad Medical Corporation, Doha, Qatar
,
Lina Habboub1 Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar
,
Ahmed Tomerak1 Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar
&
Rajesh Pattuvalappil1 Department of Pediatrics and Neonatology, Al Wakra Hospital, Hamad Medical Corporation, Al Wakra, Qatar
Pages 89-93 | Published online: 23 Oct 2020

References

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  • Perlman M, Levin M, Wittels B. Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms’ tumor. Cancer. 1975;35(4):1212–1217. doi:10.1002/1097-0142(197504)35:4<1212::aid-cncr2820350427>3.0.co;2-2
  • Astuti D, Morris MR, Cooper WN, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012;44(3):277–284. doi:10.1038/ng.1071
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  • Higashimoto K, Maeda T, Okada J, et al. Homozygous deletion of dis3l2 exon 9 due to non-allelic homologous recombination between line-1s in a japanese patient with Perlman syndrome. Eur J Hum Genet. 2013;21(11):1316–1319. doi:10.1038/ejhg.2013.45
  • Alessandri J-L, Cuillier F, Ramful D, et al. Perlman syndrome: report, prenatal findings and review. Am J Med Genet A. 2008;146A(19):2532–2537. doi:10.1002/ajmg.a.32391
  • Demirel G, Oguz SS, Celik IH, et al. Rare clinical entity Perlman syndrome: is cholestasis a new finding? Congenit Anom (Kyoto). 2011;51(1):43–45. doi:10.1111/j.1741-4520.2010.00294.x
  • Piccione M, Cecconi M, Giuffre M, et al. Perlman syndrome: clinical report and nine-year follow-up. Am J Med Genet A. 2005;139A(2):131–135. doi:10.1002/ajmg.a.30994

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