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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM. Pacheco-Cuéllar G, et al. Among authors: kokta v. J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26. J Bone Miner Res. 2017. PMID: 28543917 Free article.
Refractory pruritus responds to dupilumab in a patient with TTC7A mutation.
Alipour Tehrany Y, Marois L, Colmant C, Marchand V, Kokta V, Coulombe J, Marcoux D, Haddad E, McCuaig C. Alipour Tehrany Y, et al. Among authors: kokta v. JAAD Case Rep. 2020 Dec 10;8:9-12. doi: 10.1016/j.jdcr.2020.12.004. eCollection 2021 Feb. JAAD Case Rep. 2020. PMID: 33457482 Free PMC article. No abstract available.
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
Wünnemann F, Kokta V, Leclerc S, Thibeault M, McCuaig C, Hatami A, Stheneur C, Grenier JC, Awadalla P, Mitchell GA, Andelfinger G, Preuss C. Wünnemann F, et al. Among authors: kokta v. Can J Cardiol. 2016 Jan;32(1):135.e1-7. doi: 10.1016/j.cjca.2015.04.004. Epub 2015 Apr 13. Can J Cardiol. 2016. PMID: 26148450
54 results