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Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.
Ergoren MC, Akcan N, Manara E, Paolacci S, Fahrioğlu U, Betmezoglu M, Bundak R, Mocan G, Temel SG, Bertelli M. Ergoren MC, et al. Among authors: akcan n. Appl Immunohistochem Mol Morphol. 2022 Oct 1;30(9):635-639. doi: 10.1097/PAI.0000000000001056. Epub 2022 Sep 13. Appl Immunohistochem Mol Morphol. 2022. PMID: 36093893
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
23 results