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Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Smigiel, Robert; Cabala, Magdalena; Jakubiak, Aleksandra; Kodera, Hirofumi; Sasiadek, Marek J; Matsumoto, Naomichi; Sasiadek, Maria M; Saitsu, Hirotomo.
Afiliação
  • Smigiel R; Department of Social Pediatrics, Wroclaw Medical University, Poland.
  • Cabala M; Department of Social Pediatrics, Wroclaw Medical University, Poland.
  • Jakubiak A; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Kodera H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
  • Sasiadek MJ; Department of General and Interventional Radiology and Neuroradiology, Wroclaw Medical University, Wroclaw, Poland.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
  • Sasiadek MM; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Birth Defects Res A Clin Mol Teratol ; 106(4): 304-7, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26879631
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Parvovirus B19 Humano / Infecções por Parvoviridae / Colágeno Tipo IV / Transtornos Dismórficos Corporais / Esquizencefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Catarata / Parvovirus B19 Humano / Infecções por Parvoviridae / Colágeno Tipo IV / Transtornos Dismórficos Corporais / Esquizencefalia / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article