A novel mutation in L1CAM causes a mild form of L1 syndrome: a case reportOtter, 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 journal › Article › Academic › peer-review
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.
|Number of pages||5|
|Journal||Clinical case reports|
|Publication status||Published - Aug-2017|
- Behavioral phenotype of genetic syndromes, corpus callosum hypogenesis, L1CAM mutation, X-linked mental retardation, CELL-ADHESION MOLECULE, HYDROCEPHALUS, SPECTRUM, DISEASE