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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

Fig. 2

a-d Molar tooth sign in JBTS. Axial (a), coronal (b) and sagittal (c) T1-weighted images show large, thickened, elongated superior cerebellar peduncles (arrows). Note a deep interpeduncular fossa (white arrowhead) and the vermian cleft (black arrowhead). Midsagittal (d) T1-weighted image shows vermian hypoplasia (white arrowhead). e-f Ectopic posterior pituitary lobe. Postcontrast sagittal and coronal T1-weighted images show a posterior pituitary lobe (arrow) located at the level of the upper infundibulum. A very thin infundibulum is seen (asterisk) (magnified in the right upper corner of E).

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BMC Medical Genetics

ISSN: 1471-2350

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