Ontology highlight
ABSTRACT:
SUBMITTER: Kumar RA
PROVIDER: S-EPMC2893812 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Kumar Ravinesh A RA Pilz Daniela T DT Babatz Timothy D TD Cushion Thomas D TD Harvey Kirsten K Topf Maya M Yates Laura L Robb Stephanie S Uyanik Gökhan G Mancini Gracia M S GM Rees Mark I MI Harvey Robert J RJ Dobyns William B WB
Human molecular genetics 20100512 14
We previously showed that mutations in LIS1 and DCX account for approximately 85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a disproportionately small cerebellum, referred to as lissencephaly with cerebellar hypoplasia (LCH). Tubulin alpha1A (TUBA1A), encoding a critical structural subunit of microtubules, has recently been implicated in LIS. Here, we screen the largest cohort of unexplained LIS patients examined to date to determine: (i ...[more]