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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad, Aboulfazl; Najafi, Maryam; Suri, Fatemeh; Abedini, Soheila; Loum, Stephen; Karimiani, Ehsan Ghayoor; Daftarian, Narsis; Murphy, David; Doosti, Mohammad; Moghaddasi, Afrooz; Ahmadieh, Hamid; Sabbaghi, Hamideh; Rajati, Mohsen; Hashemi, Narges; Vona, Barbara; Schmidts, Miriam.
Afiliación
  • Rad A; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, 72076, Tübingen, Germany.
  • Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands.
  • Suri F; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106, Freiburg, Germany.
  • Abedini S; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Loum S; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashad University of Medical Science, Mashad, Iran.
  • Karimiani EG; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Daftarian N; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, 72076, Tübingen, Germany.
  • Murphy D; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Doosti M; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Moghaddasi A; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashad University of Medical Science, Mashad, Iran.
  • Ahmadieh H; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106, Freiburg, Germany.
  • Sabbaghi H; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Rajati M; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Hashemi N; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Vona B; Department of Otorhinolaryngology, School of Medicine, Ghaem Hospital, Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Schmidts M; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Orphanet J Rare Dis ; 17(1): 97, 2022 03 03.
Article en En | MEDLINE | ID: mdl-35241111
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Artritis / Desprendimiento de Retina / Enfermedades del Tejido Conjuntivo / Colágeno Tipo IX / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Artritis / Desprendimiento de Retina / Enfermedades del Tejido Conjuntivo / Colágeno Tipo IX / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Alemania