Journal article
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
Abstract
William Dobyns, Daniela Pilz and colleagues show that de novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, a developmental disorder characterized by distinct craniofacial features, ocular colobomata and defects in neuronal migration.
Authors
Rivière J-B; van Bon BWM; Hoischen A; Kholmanskikh SS; O'Roak BJ; Gilissen C; Gijsen S; Sullivan CT; Christian SL; Abdul-Rahman OA
Journal
Nature Genetics, Vol. 44, No. 4, pp. 440–444
Publisher
Springer Nature
Publication Date
4 2012
DOI
10.1038/ng.1091
ISSN
1061-4036
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
Abnormalities, MultipleActinsAdolescentAdultAmino Acid SequenceBase SequenceBrainChildColobomaDNA Copy Number VariationsDevelopmental DisabilitiesFemaleHumansIntellectual DisabilityMaleMolecular Sequence DataMutation, MissenseNervous System MalformationsPAX9 Transcription FactorSequence AlignmentSequence Analysis, DNASequence DeletionSyndrome