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More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Dhooge, Tibbe; Van Damme, Tim; Syx, Delfien; Mosquera, Laura M; Nampoothiri, Sheela; Radhakrishnan, Anil; Simsek-Kiper, Pelin O; Utine, Gülen E; Bonduelle, Maryse; Migeotte, Isabelle; Essawi, Osama; Ceylaner, Serdar; Al Kindy, Adila; Tinkle, Brad; Symoens, Sofie; Malfait, Fransiska.
Afiliación
  • Dhooge T; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Van Damme T; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Syx D; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Mosquera LM; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Nampoothiri S; Divison of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium.
  • Radhakrishnan A; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Simsek-Kiper PO; Department of Ophthalmology, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Utine GE; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • Bonduelle M; Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey.
  • Migeotte I; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium.
  • Essawi O; Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
  • Ceylaner S; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
  • Al Kindy A; Intergen Genetic Research Center, Ankara, Turkey.
  • Tinkle B; Department of Genetics, College of Medicine, Sultan Qaboos University, Muscat, Sultanate of Oman.
  • Symoens S; Division of Medical Genetics, Peyton Manning Children's Hospital, Indianapolis, Indiana, USA.
  • Malfait F; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.
Hum Mutat ; 42(6): 711-730, 2021 06.
Article en En | MEDLINE | ID: mdl-33739556
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Factores de Transcripción / Anomalías del Ojo / Proteínas de Unión al ADN / Inestabilidad de la Articulación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Cutáneas / Factores de Transcripción / Anomalías del Ojo / Proteínas de Unión al ADN / Inestabilidad de la Articulación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos