Supplementary Figure 3: Range of brain MRI findings in individuals with PIBF1-related Joubert syndrome. | Nature Cell Biology

Supplementary Figure 3: Range of brain MRI findings in individuals with PIBF1-related Joubert syndrome.

From: An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Supplementary Figure 3

(a–c) Mild vermis hypoplasia, mildly elevated and thickened superior cerebellar peduncles (arrowhead), and superior cerebellar dysplasia (arrow) in H1-3. (d–i) Classic molar tooth sign in H2-4 and H3-3. (j–l) Classic molar tooth sign with more severe vermis hypoplasia, cervicomedullary heterotopia (white arrow), and foramen magnum cephalocele (white arrowhead) in H4-3. (a,d,g,j) are T1-weighted images. (b,c,e,f,h,i,k,l) are T2-weighted images.

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