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Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li, Dong; Wenger, Tara L; Seiler, Christoph; March, Michael E; Gutierrez-Uzquiza, Alvaro; Kao, Charlly; Bhoj, Elizabeth; Tian, Lifeng; Rosenbach, Misha; Liu, Yichuan; Robinson, Nora; Behr, Mechenzie; Chiavacci, Rosetta; Hou, Cuiping; Wang, Tiancheng; Bakay, Marina; Pellegrino da Silva, Renata; Perkins, Jonathan A; Sleiman, Patrick; Levine, Michael A; Hicks, Patricia J; Itkin, Maxim; Dori, Yoav; Hakonarson, Hakon.
Afiliación
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Wenger TL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, WA, USA.
  • Seiler C; Zebrafish core, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • March ME; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gutierrez-Uzquiza A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kao C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Tian L; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Rosenbach M; Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
  • Liu Y; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Robinson N; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Behr M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Chiavacci R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Hou C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Wang T; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bakay M; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pellegrino da Silva R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Perkins JA; Division of Otolaryngology-Head and Neck Surgery, Seattle Children's Hospital, Seattle, WA, USA.
  • Sleiman P; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Levine MA; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
  • Hicks PJ; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
  • Itkin M; Division of Endocrinology and Diabetes.
  • Dori Y; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
  • Hakonarson H; Center for Lymphatic Imaging and Interventions.
Hum Mol Genet ; 27(18): 3233-3245, 2018 09 15.
Article en En | MEDLINE | ID: mdl-29905864

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor EphB4 / Vasos Linfáticos / Anomalías Linfáticas / Secuenciación del Exoma Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptor EphB4 / Vasos Linfáticos / Anomalías Linfáticas / Secuenciación del Exoma Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido