Ontology highlight
ABSTRACT:
SUBMITTER: Brock S
PROVIDER: S-EPMC6057922 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Brock Stefanie S Stouffs Katrien K Scalais Emmanuel E D'Hooghe Marc M Keymolen Kathelijn K Guerrini Renzo R Dobyns William B WB Di Donato Nataliya N Jansen Anna C AC
European journal of human genetics : EJHG 20180430 8
Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis. All had severe motor and cognitive impairment and all except one developed seizures ...[more]