Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Surgery
Reference8 articles.
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2. An updated and upgraded L1CAM mutation database;Vos;Hum. Mutat.,2010
3. ACMG Laboratory Quality Assurance Committee, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015
4. A New splicing mutation in the L1CAM Gene responsible for X-linked hydrocephalus (HSAS);Ferese;J. Mol. Neurosci.,2016
5. Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies;Shieh;Neurol. Genet.,2015
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