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PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused by a Novel Homozygous Variant in TBCD: A Case Series and Literature Review.
Ocampo-Chih, Claudia; Dennis, Hailey; Lall, Neil; Pham, Nga; Liang, Bo; Verma, Sumit; Neira Fresneda, Juanita.
Afiliação
  • Ocampo-Chih C; Monroe Carell Jr. Children's Hospital, Vanderbilt University, Nashville, Tennessee.
  • Dennis H; Department of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Lall N; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Department of Radiology, Emory University School of Medicine, Atlanta, Georgia.
  • Pham N; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Department of Pediatric Critical Care Medicine, Emory University School of Medicine, Atlanta, Georgia.
  • Liang B; Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia.
  • Verma S; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia.
  • Neira Fresneda J; Department of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia. Electronic address: jneiraf@emory.edu.
Pediatr Neurol ; 139: 59-64, 2023 02.
Article em En | MEDLINE | ID: mdl-36527993
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Neurodegenerativas Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Doenças Neurodegenerativas Idioma: En Ano de publicação: 2023 Tipo de documento: Article