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High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.
Yildiz Bölükbasi, Esra; Karolak, Justyna A; Szafranski, Przemyslaw; Gambin, Tomasz; Willard, Nicholas; Abman, Steven H; Galambos, Csaba; Kinsella, John P; Stankiewicz, Pawel.
Afiliación
  • Yildiz Bölükbasi E; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Karolak JA; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
  • Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
  • Willard N; Department of Pathology and Laboratory Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Abman SH; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Galambos C; Department of Pathology and Laboratory Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Kinsella JP; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Stankiewicz P; Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Mol Genet Genomic Med ; 10(11): e2062, 2022 11.
Article en En | MEDLINE | ID: mdl-36124617
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Circulación Fetal Persistente Límite: Female / Humans / Infant / Newborn Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos