Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. Uber familiare diffuse sklerose (leukodystrophia cerebri progressiva hereditaria);Bielschowsky;J Psychol Neurol,1928
2. Update on genetic disorders affecting white matter;Kaye;Pediatr Neurol,2001
3. Leukodystrophies: pathogenesis, diagnosis, strategies, therapies, and future research directions;Maria;J Child Neurol,2003
4. The burden of inherited leukodystrophies in children;Bonkowsky;Neurology,2010
5. Invited article: an MRI-based approach to the diagnosis of white matter disorders;Schiffmann;Neurology,2009
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3. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations;PLOS Computational Biology;2022-10-07
4. Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations;2022-06-17
5. A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia;Human Genome Variation;2022-06-03
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