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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk, Tessa; Ferdinandusse, Sacha; Ruiter, Jos P N; Alders, Mariëlle; Mathijssen, Inge B; Parboosingh, Jillian S; Innes, A Micheil; Meijers-Heijboer, Hanne; Poll-The, Bwee Tien; Bernier, Francois P; Wanders, Ronald J A; Lamont, Ryan E; Baas, Frank.
Afiliação
  • van Dijk T; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Ferdinandusse S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ruiter JPN; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Alders M; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Parboosingh JS; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Innes AM; Department of Medical Genetics, and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Meijers-Heijboer H; Department of Medical Genetics, and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Poll-The BT; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • Bernier FP; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
  • Wanders RJA; Department of Medical Genetics, and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Lamont RE; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Baas F; Department of Medical Genetics, and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Eur J Hum Genet ; 26(12): 1752-1758, 2018 12.
Article em En | MEDLINE | ID: mdl-30089828
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Transferases / Doenças Cerebelares / Mutação com Perda de Função / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Transferases / Doenças Cerebelares / Mutação com Perda de Função / Microcefalia Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda