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2. Gershoni-Baruch R, Lerner A, Braun J, Katzir Y, Iancu TC, Benderly A. Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. Am J Med Genet 1990;35:546-51.

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6. Holcomb MA, Rizk HG, Morris NS, Meyer TA. Bilateral cochlear implantation in a child with Johanson Blizzard syndrome. Int J Pediatr Otorhinolaryngol 2017;95:69-71.

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14. Atik T, Karakoyun M, Sukalo M, Zenker M, Ozkinay F, Aydoğdu S. Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: a mild phenotype without mental retardation. Gene 2015;570:153-5.

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