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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Sirmaci A, et al. Among authors: kavaz a. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21. Am J Hum Genet. 2011. PMID: 21782149 Free PMC article.
Hypertension and hypokalemia in a 15-year-old boy: question.
Ozçakar ZB, Fitöz S, Kavaz A, Burgu B, Soygür T, Akpınar E, Ekim M, Sertçelik A, Yalçınkaya F. Ozçakar ZB, et al. Among authors: kavaz a. Pediatr Nephrol. 2010 Dec;25(12):2443-7. doi: 10.1007/s00467-009-1438-9. Epub 2010 Feb 9. Pediatr Nephrol. 2010. PMID: 20143099 No abstract available.
Hypertension in children after renal transplantation.
Bulum B, Özçakar ZB, Kavaz A, Tutar E, Ekim M, Yalçınkaya F. Bulum B, et al. Among authors: kavaz a. Pediatr Int. 2015 Dec;57(6):1138-42. doi: 10.1111/ped.12703. Epub 2015 Nov 5. Pediatr Int. 2015. PMID: 26009796
27 results