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Phenotype of ST3GAL3 deficient patients: A case and review of the literature.
Khamirani HJ, Zoghi S, Faghihi F, Dastgheib SA, Hassanipour H, Bagher Tabei SM, Mohammadi S, Masoudi M, Poorang S, Ehsani E, Dianatpour M. Khamirani HJ, et al. Among authors: dianatpour m. Eur J Med Genet. 2021 Aug;64(8):104250. doi: 10.1016/j.ejmg.2021.104250. Epub 2021 May 20. Eur J Med Genet. 2021. PMID: 34022416 Review.
A novel PTRH2 missense mutation causing IMNEPD: a case report.
Khamirani HJ, Zoghi S, Dianatpour M, Jankhah A, Tabei SS, Mohammadi S, Dastgheib SA. Khamirani HJ, et al. Among authors: dianatpour m. Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9. Hum Genome Var. 2021. PMID: 34112751 Free PMC article.
Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report.
Manoochehri J, Dastgheib SA, Khamirani HJ, Mollaie M, Sharifi Z, Zoghi S, Tabei SMB, Mohammadi S, Dehghanian F, Farbod Z, Dianatpour M. Manoochehri J, et al. Among authors: dianatpour m. Hum Genome Var. 2021 Nov 22;8(1):42. doi: 10.1038/s41439-021-00174-6. Hum Genome Var. 2021. PMID: 34811348 Free PMC article. No abstract available.
103 results