Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
Author:
Publisher
Elsevier BV
Subject
Developmental Biology,Genetics
Reference37 articles.
1. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype;Lecourtois;Acta Neuropathol,2010
2. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A);Poirier;Hum Mutat,2007
3. Refining the phenotype of alpha-1a tubulin (TUBA1A) mutation in patients with classical lissencephaly;Morris-Rosendahl;Clin Genet,2008
4. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A;Fallet-Bianco;Brain,2008
5. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations;Bahi-Buisson;J Med Genet,2008
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