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Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
Salehi Karlslätt, Karin; Pettersson, Maria; Jäntti, Nina; Szafranski, Przemyslaw; Wester, Tomas; Husberg, Britt; Ullberg, Ulla; Stankiewicz, Pawel; Nordgren, Ann; Lundin, Johanna; Lindstrand, Anna; Nordenskjöld, Agneta.
Afiliación
  • Salehi Karlslätt K; Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Pettersson M; Department of Pediatrics, Karolinska University Hospital, Stockholm, Sweden.
  • Jäntti N; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Szafranski P; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Wester T; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Husberg B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Ullberg U; Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden.
  • Stankiewicz P; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Nordgren A; Department of General Surgery, Ersta Hospital, Stockholm, Sweden.
  • Lundin J; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
  • Lindstrand A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Nordenskjöld A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Mol Genet Genomic Med ; 7(3): e549, 2019 03.
Article en En | MEDLINE | ID: mdl-30632303
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Williams / Síndrome de Cornelia de Lange / Vólvulo Intestinal / Anomalías del Sistema Digestivo / Variaciones en el Número de Copia de ADN Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Suecia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de Williams / Síndrome de Cornelia de Lange / Vólvulo Intestinal / Anomalías del Sistema Digestivo / Variaciones en el Número de Copia de ADN Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Suecia