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

ABSTRACT: 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.

SUBMITTER: Otter M 

PROVIDER: S-EPMC5538050 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature