PMC9932026_01
Hyperpigmentation lesions on lower limbs.
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F1
She has numerous pigmented lesions on her brown-colored skin (Figure 1).
MRI:massive cortical and subcortical atrophy frontal section.
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F2
Brain MRI demonstrated massive cortico-subcortical atrophy (Figures 2, 3 ).
MRI:massive cortical and subcortical atrophy Sagittal section.
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F3
Brain MRI demonstrated massive cortico-subcortical atrophy (Figures 2, 3 ).
Genetic examination and family study of the ERCC4 gene. (A) Proband's WES results and (B) results of family study performed by NGS-based amplicon deep sequencing. Integrative Genomics Viewer screenshots are presented.
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F4
Moreover, in the proband, a heterozygous non-sense variant in the SPTB gene (hg38 chr14:064786837-C>T; NM_001355436.2:c.3128G>A (p.Trp1043Ter), rs1594775390) was identified (Figure 4).