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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Figure 2

Sequence analysis of exon 4 amplified from DNA obtained from lymphocytes and cheek swab of patient 12 and from lymphocytes of his parents. The upper two sequence profiles (patient) show low signals for the mutant variant superimposed on the wild-type sequence (arrow). The lower two sequence profiles (parents) show the wild type sequence.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172