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Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
Chen, Nelson; Lee, Hane; Kim, Angela H; Liu, Pei-Kang; Kang, Eugene Yu-Chuan; Tseng, Yun-Ju; Seo, Go Hun; Khang, Rin; Liu, Laura; Chen, Kuan-Jen; Wu, We-Chi; Hsiao, Meng-Chang; Wang, Nan-Kai.
Afiliación
  • Chen N; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, New York, NY, 10032, USA.
  • Lee H; Faculty of Health Sciences, Queen's University, Kingston, Ontario, Canada.
  • Kim AH; Division of Medical Genetics, 3billion, Inc., Seoul, South Korea.
  • Liu PK; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, New York, NY, 10032, USA.
  • Kang EY; College of Medicine at the State University of New York at Downstate Medical Center, Brooklyn, NY, USA.
  • Tseng YJ; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, New York, NY, 10032, USA.
  • Seo GH; Department of Ophthalmology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
  • Khang R; School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
  • Liu L; Institute of Biomedical Sciences, National Sun Yat-sen University, Kaohsiung, Taiwan.
  • Chen KJ; Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
  • Wu WC; College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Hsiao MC; Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan.
  • Wang NK; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, New York, NY, 10032, USA.
BMC Ophthalmol ; 22(1): 441, 2022 Nov 16.
Article en En | MEDLINE | ID: mdl-36384460
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Síndromes de Usher Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retinitis Pigmentosa / Síndromes de Usher Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: BMC Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos