Your browser doesn't support javascript.
loading
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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-26879631
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Parvovirus B19 Humano / Infecciones por Parvoviridae / Colágeno Tipo IV / Trastorno Dismórfico Corporal / Esquizencefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Birth Defects Res A Clin Mol Teratol Año: 2016 Tipo del documento: Article País de afiliación: Polonia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Parvovirus B19 Humano / Infecciones por Parvoviridae / Colágeno Tipo IV / Trastorno Dismórfico Corporal / Esquizencefalia / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Birth Defects Res A Clin Mol Teratol Año: 2016 Tipo del documento: Article País de afiliación: Polonia