Your browser doesn't support javascript.
loading
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li, Dong; March, Michael E; Fortugno, Paola; Cox, Liza L; Matsuoka, Leticia S; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C; Bedoukian, Emma C; Sánchez-Soler, María José; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R P; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C; Zackai, Elaine H; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J.
Afiliación
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu.
  • March ME; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Fortugno P; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Cox LL; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Matsuoka LS; Departments of Oral and Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City School of Dentistry, Kansas City, MO, 64108, USA.
  • Monetta R; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Seiler C; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
  • Pyle LC; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Bedoukian EC; Zebrafish Core Facility, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.
  • Sánchez-Soler MJ; Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Caluseriu O; Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Grand K; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España.
  • Tam A; Department of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.
  • Aycinena ARP; The Stollery Pediatric Hospital, Edmonton, AB, T6G 2H7, Canada.
  • Camerota L; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Guo Y; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Sleiman P; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Callewaert B; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
  • Kumps C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Dheedene A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Buckley M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Kirk EP; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Turner A; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Kamien B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Patel C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Wilson M; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
  • Roscioli T; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
  • Christodoulou J; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Cox TC; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
  • Zackai EH; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
  • Brancati F; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
  • Hakonarson H; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Bhoj EJ; NSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
Hum Genet ; 140(7): 1061-1076, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33811546
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Anomalías Múltiples / Deformidades Congénitas del Pie / Deformidades Congénitas de la Mano / Cadherinas / Adhesión Celular / Anomalías Craneofaciales / Hipertelorismo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Anomalías Múltiples / Deformidades Congénitas del Pie / Deformidades Congénitas de la Mano / Cadherinas / Adhesión Celular / Anomalías Craneofaciales / Hipertelorismo Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Alemania