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Clinical and molecular spectrum of CHOPS syndrome.
Raible, Sarah E; Mehta, Devanshi; Bettale, Chiara; Fiordaliso, Sarah; Kaur, Maninder; Medne, Livija; Rio, Marlene; Haan, Eric; White, Susan M; Cusmano-Ozog, Kristina; Nishi, Eriko; Guo, Yiran; Wu, Honglin; Shi, Xiaoqing; Zhao, Qingjie; Zhang, Xueqin; Lei, Qi; Lu, Aimei; He, Xiyu; Okamoto, Nobuhiko; Miyake, Noriko; Piccione, Joseph; Allen, Julian; Matsumoto, Naomichi; Pipan, Mary; Krantz, Ian D; Izumi, Kosuke.
  • Raible SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Mehta D; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Bettale C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Fiordaliso S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Kaur M; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Rio M; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Haan E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • White SM; Roberts Individualized Medical Genetics Center (RIMGC), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Cusmano-Ozog K; Department of Genetics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Nishi E; Australia and Faculty of Health and Medical Sciences, Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, South Australia, Australia.
  • Guo Y; Department of Paediatrics, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.
  • Wu H; Rare Disease Institute, Children's National Health System, Washington, District of Columbia.
  • Shi X; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Zhao Q; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Zhang X; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Lei Q; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Lu A; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • He X; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Okamoto N; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Miyake N; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Piccione J; Department of Pediatrics, The 307 Hospital, Beijing, China.
  • Allen J; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Pipan M; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Krantz ID; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Izumi K; Division of Pulmonary Medicine and Center for Pediatric Airway Disorders, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet A ; 179(7): 1126-1138, 2019 07.
Article en En | MEDLINE | ID: mdl-31058441
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tórax / Anomalías Craneofaciales / Mutación Missense / Factores de Elongación Transcripcional / Enanismo / Oído / Cardiopatías Congénitas / Enfermedades Pulmonares / Discapacidad Intelectual / Cuello Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tórax / Anomalías Craneofaciales / Mutación Missense / Factores de Elongación Transcripcional / Enanismo / Oído / Cardiopatías Congénitas / Enfermedades Pulmonares / Discapacidad Intelectual / Cuello Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Año: 2019 Tipo del documento: Article