The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Marije E. C. Meuwissen, Dicky J. J. Halley, Liesbeth S. Smit, Maarten H. Lequin, Jan M. Cobben, Rene de Coo, Jeske van Harssel, Suzanne Sallevelt, Gwendolyn Woldringh, Marjo S. van der Knaap, Linda S. de Vries, Grazia M. S. Mancini*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)843-853
JournalGenetics in Medicine
Issue number11
Publication statusPublished - Nov 2015


  • cerebral hemorrhage
  • COL4A1
  • COL4A2
  • familial porencephaly
  • phenotype

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