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Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.

Autor: Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlemkiper@hacettepe.edu.tr., Urel-Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Arslan UE; Institute of Public Health, Hacettepe University, Ankara, Turkey., Nur B; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey., Mihci E; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey., Haliloglu M; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Alanay Y; Department of Pediatric Genetics, Acibadem Mehmet Aydınlar University Faculty of Medicine, Istanbul, Turkey., Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Publikováno v: Journal of human genetics [J Hum Genet] 2021 Jun; Vol. 66 (6), pp. 585-596. Date of Electronic Publication: 2020 Dec 07.