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The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Meuwissen, Marije E C; Halley, Dicky J J; Smit, Liesbeth S; Lequin, Maarten H; Cobben, Jan M; de Coo, René; van Harssel, Jeske; Sallevelt, Suzanne; Woldringh, Gwendolyn; van der Knaap, Marjo S; de Vries, Linda S; Mancini, Grazia M S.
  • Meuwissen ME; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Halley DJ; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
  • Smit LS; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Lequin MH; Department of Neurology, Division of Pediatric Neurology, Child Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Cobben JM; Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • de Coo R; Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands.
  • van Harssel J; Department of Neurology, Division of Pediatric Neurology, Child Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.
  • Sallevelt S; Department of Clinical Genetics, University Medical Center, University of Utrecht, Utrecht, The Netherlands.
  • Woldringh G; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van der Knaap MS; Department of Clinical Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
  • de Vries LS; Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands.
  • Mancini GM; Department of Neonatology, University Medical Center, University of Utrecht, Utrecht, The Netherlands.
Genet Med ; 17(11): 843-53, 2015 Nov.
Article en En | MEDLINE | ID: mdl-25719457
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Colágeno Tipo IV / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Colágeno Tipo IV / Estudios de Asociación Genética / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article