Ontology highlight
ABSTRACT:
SUBMITTER: Yuen YTK
PROVIDER: S-EPMC6545025 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Yuen Yue T K YTK Guella Ilaria I Roland Elke E Sargent Michael M Boelman Cyrus C
BMC medical genetics 20190531 1
<h4>Background</h4>Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previously described in literature to our knowledge. Here we present two new patients with novel de novo TUBG1 mutations and review other cases in the literature.<h4>Case presentations</h4>Both patients have m ...[more]