Article
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
American journal of medical genetics. Part A - 1 Oct 2017
Ejaz Resham, Lionel Anath C, Blaser Susan, Walker Susan, Scherer Stephen W, Babul-Hirji Riyana, Marshall Christian R, Stavropoulos Dimitri J, Chitayat David
Abstract excerpt
Disorders of brain formation can occur from pathogenic variants in various alpha and beta tubulin genes. Heterozygous pathogenic variants in the beta tubulin isotype A gene, TUBB2A, have been recently implicated in brain malformations, seizures, and developmental delay. Limited information is known regarding the phenotypic spectrum associated with pathogenic variants in this gene given the rarity of the...
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