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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Figure 2

Brain MRI of PCH patients with an EXOSC3 mutation. Sagittal and coronal images of a patient with a homozygous p.G31A mutation (A, patient 5-II, age 2w), a patient with a homozygous p.D132A mutation (B, patient 7-I, age 11y) and a patient with a p.D132A mutation and large deletion (C, patient 8, age 1mo). Cerebellar cysts in this last patient are indicated by arrow heads.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172