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Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.
Nishina, Sachiko; Hosono, Katsuhiro; Ishitani, Shizuka; Kosaki, Kenjiro; Yokoi, Tadashi; Yoshida, Tomoyo; Tomita, Kaoru; Fukami, Maki; Saitsu, Hirotomo; Ogata, Tsutomu; Ishitani, Tohru; Hotta, Yoshihiro; Azuma, Noriyuki.
Afiliación
  • Nishina S; Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan. nishina-s@ncchd.go.jp.
  • Hosono K; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Ishitani S; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Yokoi T; Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.
  • Yoshida T; Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.
  • Tomita K; Heiwa Eye Clinic, Tokyo, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Ishitani T; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan.
  • Azuma N; Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, Tokyo, Japan.
J Hum Genet ; 66(10): 1021-1027, 2021 Oct.
Article en En | MEDLINE | ID: mdl-33640901
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Blefarofimosis / Quinasa 9 Dependiente de la Ciclina / Distrofias Retinianas / Síndrome CHARGE Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Blefarofimosis / Quinasa 9 Dependiente de la Ciclina / Distrofias Retinianas / Síndrome CHARGE Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Japón