Open AccessA novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
Author(s) -
Otter Maarten,
Wevers Marijke,
Pisters Marline,
Pfundt Rolph,
Vos Yvonne,
Nievelstein Rutger Jan,
Stumpel Constance
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1038
Subject(s) - medicine , mutation , dermatology , genetics , gene , biology
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.