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A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.
Ohori, Sachiko; Mitsuhashi, Satomi; Ben-Haim, Revital; Heyman, Eli; Sengoku, Toru; Ogata, Kazuhiro; Matsumoto, Naomichi.
Affiliation
  • Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. satomits@yokohama-cu.ac.jp.
  • Ben-Haim R; Pediatric Neurology and Development Center, Shamir Medical Center, 70300, Tzrifin, Beer Yaakov, Israel.
  • Heyman E; Pediatric Neurology and Development Center, Shamir Medical Center, 70300, Tzrifin, Beer Yaakov, Israel.
  • Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. naomat@yokohama-cu.ac.jp.
J Hum Genet ; 65(5): 481-485, 2020 May.
Article in En | MEDLINE | ID: mdl-32005903
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Full text: 1 Database: MEDLINE Main subject: Mutation, Missense / Epilepsy / P21-Activated Kinases / Protein Multimerization / Megalencephaly / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Mutation, Missense / Epilepsy / P21-Activated Kinases / Protein Multimerization / Megalencephaly / Neurodevelopmental Disorders Type of study: Prognostic_studies Limits: Child / Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: Japan