Publication

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

Otter, M., Wevers, M., Pisters, M., Pfundt, R., Vos, Y., Nievelstein, R. J. & Stumpel, C., Aug-2017, In : Clinical case reports. 5, 8, p. 1213-1217 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

Key Clinical Message Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole-exome sequencing.

Original languageEnglish
Pages (from-to)1213-1217
Number of pages5
JournalClinical case reports
Volume5
Issue number8
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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