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Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Rosati, Justin; Johnson, Jessica; Stander, Zinandre; White, Amy; Tortorelli, Silvia; Bailey, Diana; Fong, Chin-To; Lee, Bo Hoon.
Afiliação
  • Rosati J; Department of Neurology, University of Rochester, Rochester, New York, USA.
  • Johnson J; Department of Neurology, University of Rochester, Rochester, New York, USA.
  • Stander Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • White A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Tortorelli S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
  • Bailey D; Department of Pediatrics, University of Rochester, Rochester, New York, USA.
  • Fong CT; Department of Pediatrics, University of Rochester, Rochester, New York, USA.
  • Lee BH; Department of Neurology, University of Rochester, Rochester, New York, USA.
Am J Med Genet A ; 191(3): 842-845, 2023 03.
Article em En | MEDLINE | ID: mdl-36495139
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Central / Doenças Neurodegenerativas Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Central / Doenças Neurodegenerativas Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article