Novel Homozygous TUBGCP6 Variant Impairs Brain Development: Case Report and Literature Review
Published online on April 25, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
TheTUBGCP6gene (22q13.33) encodes the tubulin gamma complex–associated protein 6 (TUBGCP6), which plays an essential role in centrosome function. BiallelicTUBGCP6variants cause an ultrarare disease with microcephaly, neurodevelopmental delay, and ...
TheTUBGCP6gene (22q13.33) encodes the tubulin gamma complex–associated protein 6 (TUBGCP6), which plays an essential role in centrosome function. BiallelicTUBGCP6variants cause an ultrarare disease with microcephaly, neurodevelopmental delay, and ...