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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Yamoto, Kaori; Saitsu, Hirotomo; Nishimura, Gen; Kosaki, Rika; Takayama, Shinichiro; Haga, Nobuhiko; Tonoki, Hidefumi; Okumura, Akihisa; Horii, Emiko; Okamoto, Nobuhiko; Suzumura, Hiroshi; Ikegawa, Shiro; Kato, Fumiko; Fujisawa, Yasuko; Nagata, Eiko; Takada, Shuji; Fukami, Maki; Ogata, Tsutomu.
Affiliation
  • Yamoto K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Iruma, Japan.
  • Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
  • Takayama S; Division of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan.
  • Haga N; Department of Rehabilitation Medicine, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
  • Tonoki H; Department of Pediatrics, Sapporo Tenshi Hospital, Sapporo, Japan.
  • Okumura A; Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
  • Horii E; Department of Orthopedic Surgery, Nagoya First Red Cross Hospital, Nagoya, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Suzumura H; Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Japan.
  • Ikegawa S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
  • Kato F; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Fujisawa Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nagata E; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Takada S; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.
Eur J Hum Genet ; 27(12): 1845-1857, 2019 12.
Article in En | MEDLINE | ID: mdl-31332306
Subject(s)
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Full text: 1 Database: MEDLINE Main subject: Hand Deformities, Congenital / Limb Deformities, Congenital / Ubiquitin-Activating Enzymes / Low Density Lipoprotein Receptor-Related Protein-6 Type of study: Diagnostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Hand Deformities, Congenital / Limb Deformities, Congenital / Ubiquitin-Activating Enzymes / Low Density Lipoprotein Receptor-Related Protein-6 Type of study: Diagnostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Japan