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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.

Original publication

DOI

10.1002/ccr3.663

Type

Journal article

Journal

Clin Case Rep

Publication Date

10/2016

Volume

4

Pages

952 - 956

Keywords

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