Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Autor: Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Ayaz E; Department of Pediatric Radiology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Soğukpınar M; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Avcı-Durmuşalioğlu E; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yıldız AE; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Elcioglu NH; Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Turkey.; Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Turkey., Eda Utine G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63785. Date of Electronic Publication: 2024 Jun 11.

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