A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of th...
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the
WDR62
gene, which encodes the WD repeat–containing protein 62. Patients with
WDR62
mutation may have a wide range of malformations of c...
Alternative Titles
Full title
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_journals_2215206688
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2215206688
Other Identifiers
ISSN
1234-1983
E-ISSN
2190-3883
DOI
10.1007/s13353-019-00486-y
