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NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.
Ritter, Alyssa; Werner, Petra; Latney, Brande; Krock, Bryon L; Santani, Avni; Bedoukian, Emma; Skraban, Cara M; Deardorff, Matthew A; Goldmuntz, Elizabeth.
Afiliación
  • Ritter A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.
  • Werner P; Divison of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, USA.
  • Latney B; Divison of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, USA.
  • Krock BL; Divison of Cardiology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, USA.
  • Santani A; ARUP Institute for Clinical and Experimental Pathology®, ARUP Laboratories, Salt Lake City, Utah, USA.
  • Bedoukian E; University of Utah School of Medicine, Department of Pathology, Salt Lake City, Utah, USA.
  • Skraban CM; Division of Molecular Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Pennsylvania, USA.
  • Deardorff MA; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.
  • Goldmuntz E; The Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 182(6): 1454-1459, 2020 06.
Article en En | MEDLINE | ID: mdl-32198970
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tronco Arterial / Proteínas de Homeodominio / Proteínas de Dominio T Box / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tronco Arterial / Proteínas de Homeodominio / Proteínas de Dominio T Box / Cardiopatías Congénitas Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos