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Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.
Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, Kenji.
Affiliation
  • Chinen Y; Department of Pediatrics Faculty of Medicine University of the Ryukyus Nishihara Japan.
  • Nakamura S; Department of Pediatrics Faculty of Medicine University of the Ryukyus Nishihara Japan.
  • Ganaha A; Department of Otorhinolaryngology, Head and Neck Surgery Faculty of Medicine University of the Ryukyus Nishihara Japan.
  • Hayashi S; Department of Molecular Cytogenetics Medical Research Institute Tokyo Medical and Dental University Tokyo Japan.
  • Inazawa J; Hard Tissue Genome Research Center Tokyo Medical and Dental University Tokyo Japan.
  • Yanagi K; Department of Molecular Cytogenetics Medical Research Institute Tokyo Medical and Dental University Tokyo Japan.
  • Nakanishi K; Hard Tissue Genome Research Center Tokyo Medical and Dental University Tokyo Japan.
  • Kaname T; Department of Genome Medicine National Center for Child Health and Development Tokyo Japan.
  • Naritomi K; Department of Pediatrics Faculty of Medicine University of the Ryukyus Nishihara Japan.
Clin Case Rep ; 6(2): 330-336, 2018 02.
Article de En | MEDLINE | ID: mdl-29445472

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Clin Case Rep Année: 2018 Type de document: Article Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: Clin Case Rep Année: 2018 Type de document: Article Pays de publication: Royaume-Uni