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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyr...

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyr...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2969850

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

About this item

Full title

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Publisher

New York: Nature Publishing Group US

Journal title

Nature genetics, 2010-11, Vol.42 (11), p.1015-1020

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Christopher Walsh and colleagues used targeted high-throughput sequencing to identify mutations in
WDR62
in human microcephaly. The authors report that WDR62 is a centrosomal protein.
Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate and DNA repair....

Alternative Titles

Full title

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2969850

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2969850

Other Identifiers

ISSN

1061-4036,1546-1718

E-ISSN

1546-1718

DOI

10.1038/ng.683

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