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A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.
Kawano-Matsuda, Fumika; Shimada, Yumi; Omotobara-Yabe, Tomona; Itonaga, Tomoyo; Maeda, Miwako; Maeda, Tomoki; Yamaguchi, Tomomi; Kosho, Tomoki; Ihara, Kenji.
Afiliação
  • Kawano-Matsuda F; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Shimada Y; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Omotobara-Yabe T; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Itonaga T; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Maeda M; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Maeda T; Department of Pediatrics, Oita University Faculty of Medicine, Yufu-City, Oita.
  • Yamaguchi T; Department of Medical Genetics, Shinshu University School of Medicine.
  • Kosho T; Center for Medical Genetics, Shinshu University Hospital.
  • Ihara K; Department of Medical Genetics, Shinshu University School of Medicine.
Clin Dysmorphol ; 29(1): 49-52, 2020 Jan.
Article em En | MEDLINE | ID: mdl-30946035
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Mutação de Sentido Incorreto / Displasia Septo-Óptica / Endoglina Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Mutação de Sentido Incorreto / Displasia Septo-Óptica / Endoglina Idioma: En Ano de publicação: 2020 Tipo de documento: Article