Novel EYA1 variants causing Branchio-oto-renal syndrome.

Autor: Klingbeil KD; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Greenland CM; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Arslan S; Karadeniz Technical University, Faculty of Medicine, Department of ENT, Trabzon, Turkey., Llamos Paneque A; Medical Genetics Lab, FFAA Hospital, Quito, Ecuador., Gurkan H; Trakya University, School of Medicine, Department of Medical Genetics, Edirne, Turkey., Demir Ulusal S; Trakya University, School of Medicine, Department of Medical Genetics, Edirne, Turkey., Maroofian R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter, UK., Carrera-Gonzalez A; Medical Genetics Lab, FFAA Hospital, Quito, Ecuador., Montufar-Armendariz S; Medical Genetics Lab, FFAA Hospital, Quito, Ecuador., Paredes R; Medical Genetics Lab, FFAA Hospital, Quito, Ecuador., Elcioglu N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey., Menendez I; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Behnam M; Medical Genetics Laboratory of Genome, Isfahan, Iran., Foster J 2nd; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Guo S; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Escarfuller S; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Cengiz FB; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Duman D; Division of Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey., Bademci G; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA., Tekin M; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address: mtekin@med.miami.edu.

Publikováno v: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2017 Jul; Vol. 98, pp. 59-63. Date of Electronic Publication: 2017 Apr 26.