Informacje o autorze: (1)Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. (2)Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Londyn, Wielka Brytania. (3)Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Wydział Biologii Strukturalnej i Obliczeniowej oraz Biofizyki Molekularnej, Baylor College of Medicine, Houston, TX, USA. (4) Wydział Farmakologii, Baylor College of Medicine, Houston, TX, USA. (5)Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japonia. (6) Children's Hospital Central California, Madera, Kalifornia, USA. (7) Genetics Service, Belfast City Hospital, Belfast, Irlandia. (8) Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, Brazylia. (9) Department of Medical Genetics, University Hospital Antwerp, 2650 Antwerp, Belgia. (10)Zakład Genetyki Medycznej, Uniwersytet Medyczny w Poznaniu, Poznań, Polska. (11)Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Turcja. (12) Zakład Genetyki, Uniwersytet w Groningen, Groningen, Holandia. (13) Zakład Genetyki Pediatrycznej, Amrita Institute of Medical Sciences and Research Centre, Kerala, Indie. Research Centre, Kerala, Indie. (14) Genetic Health Service New Zealand-Northern Hub, Auckland City Hospital, Auckland, Nowa Zelandia. (15) Pediatric Neurology, Braunschweig Hospital, Braunschweig, Niemcy. (16)Department of Pediatrics, Saveetha Medical College and Hospital, Saveetha University, Chennai, Tamil Nadu, 600077, Indie. (17)Wydział Genetyki, Szpitale i Kliniki Miłosierdzia Dziecięcego oraz Uniwersytet Missouri-Kansas. University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA. (18)Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Quebec, Kanada. University Health Center, Quebec, Kanada. (19)Department of Pediatrics, NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital, Maharashtra, Indie. (20) University of Washington Medical Center, Seattle, WA, USA. (21)Center for Human Genetics, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile. (22)Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA. (23)Department of Clinical Genetics, Churchill Hospital, Oxford, UK. (24)Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Londyn, Wielka Brytania. (25)Centre Référence Anomalie Développement et Syndromes Malformatifs, Centre Hospitalier Universitaire de Nice, Francja. (26)Kariminejad-Najmabadi Pathology and Genetics Center, Teheran, Iran. (27)Manchester Centre for Genomic Medicine, Institute of Human Development, Wydział Nauk Medycznych i Humanistycznych, Uniwersytet w Manchesterze, Manchester, Wielka Brytania; Manchester Centre for Genomic Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Wielka Brytania. Rozwoju, Wydział Nauk Medycznych i Humanistycznych, Uniwersytet w Manchesterze, Manchester, Wielka Brytania; St Mary's Hospital, Manchester Academic Health Science Centre, Manchester, Wielka Brytania. (28)Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Holandia. (29)Institut für Humangenetik, University of Duisburg-Essen, University Hospital Essen, Essen, Niemcy. (30)Department of Pediatrics and Translational Genetics, Academic Medical Center, University of Amsterdam, Amsterdam. Center, University of Amsterdam, Amsterdam, Holandia. (31)Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. (32)Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Howard Hughes Medical Institutes, Houston, TX, USA. Elektroniczny adres: blee@bcm.edu. (33)Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Londyn, Wielka Brytania; Epilepsy Society, Buckinghamshire, Wielka Brytania. Adres elektroniczny adres: s.sisodiya@ucl.ac.uk.
Wymień typowe objawy występujące u pacjentów z zespołem DOORS.
Zespół DOORS to konstelacja głuchoty, onychodystrofii, osteodystrofii, upośledzenia umysłowego i drgawek. Jest to rzadkie autosomalne recesywne zaburzenie o nieznanej przyczynie.