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Cantú syndrome is caused by mutations in ABCC9.
van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. van Bon BW, et al. Among authors: eser m. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608503 Free PMC article.
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Among authors: eser m. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells.
Babayeva R, Mongellaz C, Karakus IS, Cansever M, Bilgic Eltan S, Catak MC, Bulutoglu A, Kendir Demirkol Y, Eser M, Karakoc-Aydiner E, Ozen A, Zimmermann VS, Taylor N, Baris S. Babayeva R, et al. Among authors: eser m. Pediatr Allergy Immunol. 2022 Mar;33(3):e13756. doi: 10.1111/pai.13756. Pediatr Allergy Immunol. 2022. PMID: 35338726 Free PMC article. No abstract available.
106 results