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. 2016 Oct 20;99(5):1181–1189. doi: 10.1016/j.ajhg.2016.09.007

Figure 2.

Figure 2

Family Pedigrees and Brain MRI of Individuals with TMTC3 Variants

(A) Pedigrees harboring biallelic damaged variants in TMTC3. Double bars indicate consanguinity, and filled symbols represent affected individuals.

(B) Sagittal MRI (upper panel) showing hypoplasia of the corpus callosum (red arrow in B2, B3, and B5), hypoplastic brainstem (yellow arrowhead in B2–B4), cerebellum (yellow star in B3), or dysplastic cerebellum (yellow star in B4 and B5). Note the occipital meningocele (red asterisk in B2). Axial MRI (lower panel) reveals COB with heterotopic neurons (red arrow in B2′, B3′, B5′, and B6’). Ventriculomegaly was also observed in most individuals.