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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Novel MNX1 mutations and genotype–phenotype analysis of patients with Currarino syndrome

Fig. 1

Distribution of the nine MNX1 variants detected in CS patients in this study. a Schematic representation of the exon-intron structure of MNX1. Black bars represent exons, and black lines represent introns, with patient variants indicated above the MNX1 genomic structure. b Domain structure of MNX1 (GenBank: NP_005506.3), including the positions (numbers) of identified amino acid alterations. Abbreviation: HOX, homeodomain. Novel and previously reported variants are shown in red and black, respectively, in (a) and (b)

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