FIGURE
Fig. 1
- ID
- ZDB-FIG-240621-59
- Publication
- van Karnebeek et al., 2024 - CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
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Fig. 1
Magnetic Resonance Images (MRI) of patient 1 and 3. T2-weighted images at the age of 5 days of patient 1 showed regions in both hemispheres with a simplified gyral pattern, indicated by blue arrows in (A), (B), and (C). The red arrow in (B) marks a possible abnormal lateral right temporal lobe, but the actual anatomy is obscured by a Gibbs artifact. MRI of patient 3 at the age of 4 years ([D] (FLAIR), [E] (T2 weighted), and [F] (T1 weighted) showed enlarged lateral and third ventricles, decreased volume of cerebral white matter and incomplete myelination, and pontocerebellar atrophy. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
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