A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report

Maarten Otter*, Marijke Wevers, Marline Pisters, Rolph Pfundt, Yvonne Vos, Rutger Jan Nievelstein, Constance Stumpel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1213-1217
Number of pages5
JournalClinical Case Reports
Volume5
Issue number8
DOIs
Publication statusPublished - Aug 2017

Keywords

  • Behavioral phenotype of genetic syndromes
  • corpus callosum hypogenesis
  • L1CAM mutation
  • X-linked mental retardation
  • CELL-ADHESION MOLECULE
  • HYDROCEPHALUS
  • SPECTRUM
  • DISEASE

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