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A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation.
Yagasaki, Hideaki; Toda, Takako; Koizumi, Keiichi; Sugiyama, Takeshi; Ohyama, Tetsuo; Hoshiai, Minako; Nakane, Takaya; Sugita, Kanji.
Affiliation
  • Yagasaki H; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan. Electronic address: yagasaki@mwd.biglobe.ne.jp.
  • Toda T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Koizumi K; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Sugiyama T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Ohyama T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Hoshiai M; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Nakane T; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
  • Sugita K; Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
Pediatr Neonatol ; 59(3): 319-321, 2018 06.
Article in En | MEDLINE | ID: mdl-28951171
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharoptosis / Chromosome Deletion / Intellectual Disability / Methyltransferases Limits: Humans / Male / Newborn Language: En Journal: Pediatr Neonatol Year: 2018 Document type: Article Country of publication: Singapore
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blepharoptosis / Chromosome Deletion / Intellectual Disability / Methyltransferases Limits: Humans / Male / Newborn Language: En Journal: Pediatr Neonatol Year: 2018 Document type: Article Country of publication: Singapore