Your browser doesn't support javascript.
loading
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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-37882972
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Limite: Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Microcefalia / Malformações do Sistema Nervoso Limite: Humans / Male Idioma: En Ano de publicação: 2024 Tipo de documento: Article