论文信息 - Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities - 字舞流文

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

A. Pagnamenta | D. Keays | S. Knight | Jenny C. Taylor | U. Kini | Malcolm F. Howard | G. Quaghebeur