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Journal of Obstetrics and Gynaecology Volume 42, 2022 - Issue 3
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Obstetrics

Congenital extremity anomalies with a TBX5 pathogenic variant in consecutive IVF assisted pregnancies: a case report of Holt-Oram Syndrome

Omar Sobha Department of OB/GYN, Yale New Haven Health, Bridgeport Hospital, Bridgeport, CT, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-3143-9924
ORCID Icon,
Robert O’Sullivana Department of OB/GYN, Yale New Haven Health, Bridgeport Hospital, Bridgeport, CT, USA
,
Maurice J. Mahoneyb Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
&
Gary Kleinmana Department of OB/GYN, Yale New Haven Health, Bridgeport Hospital, Bridgeport, CT, USA
Pages 524-526 | Published online: 23 Jun 2021

References

  • Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al. 1997. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genetics 15:30–35.
  • Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski AK, Traill TA, et al. 1994. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). The New England Journal of Medicine 330:885–91. Available from: https://www.ncbi.nlm.nih.gov/pubmed/8114858 [Accessed: 14 December, 2019].
  • Debeer P, Race V, Gewillig M, Devriendt K, Frijns J-P. 2007. Novel TBX5 mutations in patients with holt-oram syndrome. Clinical Orthopaedics and Related Research 462:20–26.
  • Gros J, Tabin CJ. 2014. Vertebrate limb bud formation is initiated by localized epithelial-to-mesenchymal transition. Science 343:1253–1256.
  • Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, et al. 2001. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nature Genetics 28: 276–280.
  • Huang T. 2002. Current advances in Holt-Oram syndrome. Current Opinion in Pediatrics 14:691–695.
  • Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, et al. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genetics 15:21–29.
  • McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, et al. 2005. TBX5 genetic testing validates strict clinical criteria for holt-oram syndrome. Pediatric Research 58:981–986.
  • Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. 1996. Holt-Oram syndrome: a clinical genetic study. Journal of Medical Genetics 33:300–307.

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