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

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)
Original languageEnglish
Pages (from-to)843-853
JournalGenetics in Medicine
Volume17
Issue number11
DOIs
Publication statusPublished - Nov 2015

Keywords

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

Cite this

Meuwissen, M. E. C., Halley, D. J. J., Smit, L. S., Lequin, M. H., Cobben, J. M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M. S., de Vries, L. S., & Mancini, G. M. S. (2015). The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genetics in Medicine, 17(11), 843-853. https://doi.org/10.1038/gim.2014.210