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

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.

SUBMITTER: Pagnamenta AT 

PROVIDER: S-EPMC5054469 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature