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

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.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5054469/
https://ncbi.nlm.nih.gov/pubmed/27761245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.663
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