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Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.
Tsai, Ellen A; Grochowski, Christopher M; Falsey, Alexandra M; Rajagopalan, Ramakrishnan; Wendel, Danielle; Devoto, Marcella; Krantz, Ian D; Loomes, Kathleen M; Spinner, Nancy B.
Afiliación
  • Tsai EA; Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Grochowski CM; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Falsey AM; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Rajagopalan R; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Wendel D; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Devoto M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Krantz ID; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Loomes KM; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Spinner NB; Department of Molecular Medicine, University La Sapienza, Rome, Italy.
Hum Mutat ; 36(6): 631-7, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25765999
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atresia Biliar / Eliminación de Secuencia / Factor Nuclear 3-beta del Hepatocito / Síndrome de Heterotaxia / Heterocigoto / Hipopituitarismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atresia Biliar / Eliminación de Secuencia / Factor Nuclear 3-beta del Hepatocito / Síndrome de Heterotaxia / Heterocigoto / Hipopituitarismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article