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Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
Fujinami, Kaoru; Oishi, Akio; Yang, Lizhu; Arno, Gavin; Pontikos, Nikolas; Yoshitake, Kazutoshi; Fujinami-Yokokawa, Yu; Liu, Xiao; Hayashi, Takaaki; Katagiri, Satoshi; Mizobuchi, Kei; Mizota, Atsushi; Shinoda, Kei; Nakamura, Natsuko; Kurihara, Toshihide; Tsubota, Kazuo; Miyake, Yozo; Iwata, Takeshi; Tsujikawa, Akitaka; Tsunoda, Kazushige.
Afiliación
  • Fujinami K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Oishi A; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
  • Yang L; UCL Institute of Ophthalmology, London, UK.
  • Arno G; Moorfields Eye Hospital, London, UK.
  • Pontikos N; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
  • Yoshitake K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Fujinami-Yokokawa Y; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
  • Liu X; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Hayashi T; UCL Institute of Ophthalmology, London, UK.
  • Katagiri S; Moorfields Eye Hospital, London, UK.
  • Mizobuchi K; North East Thames Regional Genetics Service, UCL Great Ormond Street Institute of Child Health, Great Ormond Street NHS Foundation Trust, London, UK.
  • Mizota A; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Shinoda K; UCL Institute of Ophthalmology, London, UK.
  • Nakamura N; Moorfields Eye Hospital, London, UK.
  • Kurihara T; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Tsubota K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Miyake Y; UCL Institute of Ophthalmology, London, UK.
  • Iwata T; Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan.
  • Tsujikawa A; Division of Public Health, Yokokawa Clinic, Suita, Japan.
  • Tsunoda K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Am J Med Genet C Semin Med Genet ; 184(3): 656-674, 2020 09.
Article en En | MEDLINE | ID: mdl-32820593
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retina / Enfermedades de la Retina / Antígeno AC133 / Genética de Población Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Retina / Enfermedades de la Retina / Antígeno AC133 / Genética de Población Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Am J Med Genet C Semin Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón