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Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Fujimoto, Masanori; Nakamura, Yuji; Iwaki, Toshihiko; Sato, Emi; Ieda, Daisuke; Hattori, Ayako; Shiraki, Anna; Mizuno, Seiji; Saitoh, Shinji.
Afiliación
  • Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Iwaki T; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Sato E; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Ieda D; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Hattori A; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
  • Shiraki A; Department of Child Neurology, Toyota Municipal Child Development Center Nozomi Clinic, Toyota, Japan.
  • Mizuno S; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Saitoh S; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan.
J Hum Genet ; 68(2): 87-90, 2023 Feb.
Article en En | MEDLINE | ID: mdl-36224263
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Angelman / Disomía Uniparental Límite: Child / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome de Angelman / Disomía Uniparental Límite: Child / Humans Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón