Condition: Lissencephaly 3


rs137853043 in TUBA1A gene and Lissencephaly 3 PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.