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Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Aoki, Shintaro; Watanabe, Kazuki; Kato, Mitsuhiro; Konishi, Yukihiko; Kubota, Kazuo; Kobayashi, Emiko; Nakashima, Mitsuko; Saitsu, Hirotomo.
Affiliation
  • Aoki S; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.
  • Watanabe K; Advanced Research Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kato M; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.
  • Konishi Y; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Kubota K; Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
  • Kobayashi E; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Nakashima M; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
  • Saitsu H; Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan.
Neurogenetics ; 25(1): 3-11, 2024 Jan.
Article in En | MEDLINE | ID: mdl-37882972
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly / Nervous System Malformations Limits: Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2024 Type: Article Affiliation country: Japan
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Arthrogryposis / Neurodevelopmental Disorders / Intellectual Disability / Microcephaly / Nervous System Malformations Limits: Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2024 Type: Article Affiliation country: Japan