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Fig. 5 | Molecular Cytogenetics

Fig. 5

From: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes

Fig. 5

Schematic representation of the two affected genes (CAMTA1 and NFIA) in our two related patients (II.1 and III.1) and in other previously reported families and patients. The blue bars (for CAMTA1) and the orange bars and lines (for NFIA) represent deletions, duplications and translation breakpoints affecting the two genes in other reported families (F) and single patients (P). The red bars indicate the two simultaneous deletions disrupting CAMTA1 (1p36.31) and NFIA (1p31.3), which affect our two patients (II.1 and III.1) (scheme based on UCSC genomic bioinformatics, GRC37/hg19)

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Molecular Cytogenetics

ISSN: 1755-8166