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Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.
Cabet, Sara; Putoux, Audrey; Buenerd, Annie; Gueneau, Lucie; Reymond, Alexandre; Thia, Edwin W H; Lai, Angeline H M; Schindewolf, Erica M; Sanlaville, Damien; Lesca, Gaetan; Guibaud, Laurent.
Afiliação
  • Cabet S; Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.
  • Putoux A; Department of Genetics, Hospital Femme Mère Enfant, Lyon, Bron, France.
  • Buenerd A; Department of Pathology, Hospital Femme Mère Enfant, Lyon, Bron, France.
  • Gueneau L; Center for Integrative Genomics, Lausanne, Switzerland.
  • Reymond A; Center for Integrative Genomics, Lausanne, Switzerland.
  • Thia EWH; Department of Maternal Fetal Medicine, KK Women's & Children's Hospital, Singapore.
  • Lai AHM; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Duke-NUS Medical School, Lee Kong Medical School, Singapore.
  • Schindewolf EM; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Sanlaville D; Department of Genetics, Hospital Femme Mère Enfant, Lyon, Bron, France.
  • Lesca G; Department of Genetics, Hospital Femme Mère Enfant, Lyon, Bron, France.
  • Guibaud L; Department of Pediatric and Fetal Imaging, Hospital Femme Mère Enfant, Lyon, Bron, France.
Prenat Diagn ; 40(2): 276-281, 2020 01.
Article em En | MEDLINE | ID: mdl-31736083
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Pé Torto Equinovaro / Proteínas / Anormalidades do Olho / Cardiopatias Congênitas / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Pé Torto Equinovaro / Proteínas / Anormalidades do Olho / Cardiopatias Congênitas / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article