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A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
Fazeli, Walid; Herkenrath, Peter; Stiller, Barbara; Neugebauer, Antje; Fricke, Julia; Lang-Roth, Ruth; Nürnberg, Gudrun; Thoenes, Michaela; Becker, Jutta; Altmüller, Janine; Volk, Alexander E; Kubisch, Christian; Heller, Raoul.
Afiliação
  • Fazeli W; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Herkenrath P; Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50937 Cologne, Germany.
  • Stiller B; German Center for Neurodegenerative Diseases (DZNE), 53175 Bonn, Germany.
  • Neugebauer A; Department of Pediatrics, University Hospital Cologne, 50937 Cologne, Germany.
  • Fricke J; Department of Cardiovascular Diseases, German Heart Centre Munich, Technical University Munich, 80636 Munich, Germany.
  • Lang-Roth R; Department of Ophthalmology, University of Cologne, 50924 Cologne, Germany.
  • Nürnberg G; Department of Ophthalmology, University of Cologne, 50924 Cologne, Germany.
  • Thoenes M; Department of Otorhinolaryngology, University Hospital Cologne, 50937 Cologne, Germany.
  • Becker J; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
  • Altmüller J; Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
  • Volk AE; Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
  • Kubisch C; Cologne Center for Genomics, University of Cologne, 50937 Cologne, Germany.
  • Heller R; Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
Hum Mol Genet ; 26(20): 4055-4066, 2017 10 15.
Article em En | MEDLINE | ID: mdl-29016863
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Blefaroptose / Insuficiência Velofaríngea / Paralisia Facial Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Blefaroptose / Insuficiência Velofaríngea / Paralisia Facial Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha