ctivation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities
Pagnamenta AT., Howard MF., Knight SJL., Keays DA., Quaghebeur G., Taylor JC., Kini U.
Key Clinical MessageThis 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.