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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
Yamada, Mamiko; Suzuki, Hisato; Adachi, Hiroyuki; Noguchi, Atsuko; Miya, Fuyuki; Takahashi, Tsutomu; Kosaki, Kenjiro.
  • Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Adachi H; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
  • Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
  • Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. kkosaki@z3.keio.jp.
BMC Neurol ; 22(1): 20, 2022 Jan 10.
Article en En | MEDLINE | ID: mdl-35012485
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Proteínas de Transporte de Fosfato / Proteínas Mitocondriales / Hermanos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cerebelosas / Proteínas de Transporte de Fosfato / Proteínas Mitocondriales / Hermanos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2022 Tipo del documento: Article