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Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: akgun dogan o. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
DNAJC21-related thrombocytopenia in a young adult female.
Aslan D, Akgun-Dogan O, Ay B, Çamurdan MO, Mancılar H, Alanay Y. Aslan D, et al. Among authors: akgun dogan o. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):193-197. doi: 10.1002/ajmg.c.32043. Epub 2023 Apr 26. Am J Med Genet C Semin Med Genet. 2023. PMID: 37186482
H syndrome with a novel homozygous SLC29A3 mutation in two sisters.
Demir D, Aktaş Karabay E, Sözeri B, Gürsoy F, Akgün Doğan Ö, Topaktaş E, Zindancı İ. Demir D, et al. Pediatr Dermatol. 2020 Nov;37(6):1135-1138. doi: 10.1111/pde.14322. Epub 2020 Aug 10. Pediatr Dermatol. 2020. PMID: 32776596
Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G, Taşkıran EZ, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Utine GE. Ürel-Demir G, et al. Eur J Med Genet. 2019 Jul;62(7):103664. doi: 10.1016/j.ejmg.2019.05.003. Epub 2019 May 5. Eur J Med Genet. 2019. PMID: 31067494 Review.
Anauxetic dysplasia: A rare clinical entity.
Akgün-Doğan Ö, Şimsek-Kiper PÖ, Utine GE, Boduroğlu K. Akgün-Doğan Ö, et al. Turk J Pediatr. 2018;60(1):89-93. doi: 10.24953/turkjped.2018.01.014. Turk J Pediatr. 2018. PMID: 30102486 Free article.
32 results