A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.
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ABSTRACT:
SUBMITTER: Otter M
PROVIDER: S-EPMC5538050 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
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A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report.
Otter Maarten M Wevers Marijke M Pisters Marline M Pfundt Rolph R Vos Yvonne Y Nievelstein Rutger Jan RJ Stumpel Constance C
Clinical case reports 20170615 8
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. ...[more]
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