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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Isrie, Mala; Breuss, Martin; Tian, Guoling; Hansen, Andi Harley; Cristofoli, Francesca; Morandell, Jasmin; Kupchinsky, Zachari A; Sifrim, Alejandro; Rodriguez-Rodriguez, Celia Maria; Dapena, Elena Porta; Doonanco, Kurston; Leonard, Norma; Tinsa, Faten; Moortgat, Stéphanie; Ulucan, Hakan; Koparir, Erkan; Karaca, Ender; Katsanis, Nicholas; Marton, Valeria; Vermeesch, Joris Robert; Davis, Erica E; Cowan, Nicholas J; Keays, David Anthony; Van Esch, Hilde.
Afiliación
  • Isrie M; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for Genetics of Cognition, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Breuss M; Institute of Molecular Pathology, Vienna Biocenter, 1030 Vienna, Austria.
  • Tian G; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
  • Hansen AH; Institute of Molecular Pathology, Vienna Biocenter, 1030 Vienna, Austria.
  • Cristofoli F; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Morandell J; Institute of Molecular Pathology, Vienna Biocenter, 1030 Vienna, Austria.
  • Kupchinsky ZA; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Sifrim A; Department of Electrical Engineering, STADIUS Center for Dynamical Systems, Signal Processing and Data Analytics, KU Leuven, 3001 Heverlee, Belgium.
  • Rodriguez-Rodriguez CM; Department of Paediatrics, Ourense Hospital Complex, 32005 Ourense, Spain.
  • Dapena EP; Department of Paediatrics, Ourense Hospital Complex, 32005 Ourense, Spain.
  • Doonanco K; Medical Genetics Services, University of Alberta and Stollery Children's Hospital, Edmonton, AB T6G 2C8, Canada.
  • Leonard N; Medical Genetics Services, University of Alberta and Stollery Children's Hospital, Edmonton, AB T6G 2C8, Canada.
  • Tinsa F; Department of Pediatrics B, Children's Hospital of Tunis, 1007 Tunis, Tunisia.
  • Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgium.
  • Ulucan H; Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, 34098 Istanbul, Turkey.
  • Koparir E; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Marton V; Department of Medical Genetics, the Arctic University of Norway, 9037 Tromsø, Norway.
  • Vermeesch JR; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA.
  • Cowan NJ; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
  • Keays DA; Institute of Molecular Pathology, Vienna Biocenter, 1030 Vienna, Austria.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for Genetics of Cognition, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium. Electronic address: hilde.vanesch@med.kuleuven.be.
Am J Hum Genet ; 97(6): 790-800, 2015 Dec 03.
Article en En | MEDLINE | ID: mdl-26637975
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Piel / Anomalías Cutáneas / Tubulina (Proteína) / Encéfalo / Cutis Laxo / Hamartoma / Proteínas Asociadas a Microtúbulos / Microtúbulos / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Piel / Anomalías Cutáneas / Tubulina (Proteína) / Encéfalo / Cutis Laxo / Hamartoma / Proteínas Asociadas a Microtúbulos / Microtúbulos / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article País de afiliación: Bélgica