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Clin Case Rep. 2016 Aug 23;4(10):952-956. eCollection 2016 Oct.

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Author information

1
National Institute for Health Research Biomedical Research Centre Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK.
2
Institute of Molecular Pathology Vienna Austria.
3
Department of Neuroradiology Oxford University Hospitals NHS Foundation Trust Oxford UK.
4
Department of Clinical Genetics Oxford University Hospitals NHS Foundation Trust Oxford UK.

Abstract

This report constitutes the first report of a cryptic exonic splice-donor site in CDK5RAP2, highlights the importance of evaluating novel splice mutations, and suggests that the phenotypic range associated with CDK5RAP2 mutations may include skin pigmentary abnormalities.

KEYWORDS:

CDK5RAP2; exome; exonic splice‐donor; microcephaly; pigmentation abnormalities

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