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Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Hiraide, Takuya; Tanaka, Taihei; Masunaga, Yohei; Ohkubo, Yumiko; Nakashima, Mitsuko; Fukuda, Tokiko; Ogata, Tsutomu; Saitsu, Hirotomo.
Affiliation
  • Hiraide T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Tanaka T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Masunaga Y; Department of Pediatrics, Japanese Red Cross Nagoya Daini Hospital, Nagoya, Japan.
  • Ohkubo Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakashima M; Department of Pediatrics, Shizuoka Saiseikai Hospital, Shizuoka, Japan.
  • Fukuda T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
J Hum Genet ; 66(12): 1185-1187, 2021 Dec.
Article in En | MEDLINE | ID: mdl-34112922
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Epilepsy / Splicing Factor U2AF / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Developmental Disabilities / Epilepsy / Splicing Factor U2AF / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Japan