A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report. Issue 8 (15th June 2017)

• Record Type: Journal Article
• Authors: Otter, Maarten; Wevers, Marijke; Pisters, Marline; Pfundt, Rolph; Vos, Yvonne; Nievelstein, Rutger Jan; Stumpel, Constance
• Is Part Of: Clinical case reports. Volume 5:Issue 8(2017)
• Page Start: 1213
• Page End: 1217
• Publication Date: 2017-06-15
• Subjects: Behavioral phenotype of genetic syndromes -- corpus callosum hypogenesis -- L1CAM mutation -- X‐linked mental retardation; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1038
• Languages: English
• ISSNs: 2050-0904

Abstract

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. 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.