A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,General Medicine
Link
http://link.springer.com/article/10.1007/s13353-019-00486-y/fulltext.html
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3. Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE (2012) WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A 158A:622–625
4. Banerjee S, Chen H, Huang H, Wu J, Yang Z, Deng W, Chen D, Deng J, Su Y, Li Y, Wu C, Wang Y, Zeng H, Wang Y, Li X (2016) Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. Oncotarget 7:78363–78371
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