FIGURE

Fig. 1

ID

ZDB-FIG-251016-20

Publication

Chapman et al., 2025 - Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

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Fig. 1

Brain MRI shows corpus callosum hypoplasia in two affected individuals with TMEM184B variants (A) Sagittal plane of spoiled gradient recalled acquisition (SPGR) magnetic resonance imaging (MRI) in an individual of the same age as individual 5 (family 5-II-1) who has an unrelated pathogenic variant (ZEB2) and shows no alterations in corpus callosum thickness. (B) Sagittal T2 MRI in individual 4 (family 4-II-1; p.Lys184Glu) shows corpus callosum disruption. (C) Sagittal SPGR MRI in individual 5 (family 5-II-1; c.787+1G>A) shows corpus callosum hypoplasia.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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