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A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.
Mizumoto, Keitaro; Kato, Kumiko; Fujinami, Kaoru; Sugita, Tadasu; Sugita, Iichiro; Hattori, Ayako; Saitoh, Shinji; Ueno, Shinji; Tsunoda, Kazushige; Iwata, Takeshi; Kondo, Mineo.
Afiliación
  • Mizumoto K; Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
  • Kato K; Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
  • Fujinami K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Sugita T; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Sugita I; Department of Ophthalmology, Sugita Eye Hospital, Nagoya, Japan.
  • Hattori A; Department of Ophthalmology, Sugita Eye Hospital, Nagoya, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
  • Ueno S; Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
  • Tsunoda K; Department of Ophthalmology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
  • Iwata T; Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
  • Kondo M; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Medicine (Baltimore) ; 101(50): e32161, 2022 Dec 16.
Article en En | MEDLINE | ID: mdl-36550847
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ceguera Nocturna / Polidactilia / Síndrome de Bardet-Biedl Tipo de estudio: Diagnostic_studies Límite: Child / Humans / Male Idioma: En Revista: Medicine (Baltimore) Año: 2022 Tipo del documento: Article País de afiliación: Japón
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ceguera Nocturna / Polidactilia / Síndrome de Bardet-Biedl Tipo de estudio: Diagnostic_studies Límite: Child / Humans / Male Idioma: En Revista: Medicine (Baltimore) Año: 2022 Tipo del documento: Article País de afiliación: Japón