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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi, Tomomi; Takano, Kyoko; Inaba, Yuji; Morikawa, Manami; Motobayashi, Mitsuo; Kawamura, Rie; Wakui, Keiko; Nishi, Eriko; Hirabayashi, Shin-Ichi; Fukushima, Yoshimitsu; Kato, Hiroyuki; Takahashi, Jun; Kosho, Tomoki.
Affiliation
  • Yamaguchi T; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Takano K; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Inaba Y; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Morikawa M; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Motobayashi M; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Kawamura R; Division of Neurology, Nagano Children's Hospital, Azumino, Japan.
  • Wakui K; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Nishi E; Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Hirabayashi SI; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Fukushima Y; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Kato H; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Takahashi J; Division of Medical Genetics, Nagano Children's Hospital, Azumino, Japan.
  • Kosho T; Division of Neurology, Nagano Children's Hospital, Azumino, Japan.
Am J Med Genet A ; 179(6): 948-957, 2019 06.
Article in En | MEDLINE | ID: mdl-30941898
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Arthrogryposis / Genetic Predisposition to Disease / Genetic Association Studies / Ion Channels Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Year: 2019 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Arthrogryposis / Genetic Predisposition to Disease / Genetic Association Studies / Ion Channels Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Year: 2019 Type: Article