Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report

M.W.A. Teunissen, E.J. Kamsteeg, S.C.E.H. Sallevelt, M. Pennings, N.J.C. Bauer, R.J. Vermeulen, J. Nicolai*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number564
Number of pages5
JournalNeurology. Genetics
Volume7
Issue number2
DOIs
Publication statusPublished - 1 Apr 2021

Keywords

  • COL4A2 MUTATIONS
  • BRAIN

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