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(A) Functional CNVs in the gene-flanking regions are associated with human diseases (not to scale). References: POU3F4 (48), IRGM (49), NR0B1 (50), PMP22 (51,52), SHOX (53), PLP1 (54) and SOX9 (55–58). (B) Various CNVs/SVs in the genomic region involving WNT6, IHH and PAX3 genes can cause different phenotypes of limb malformations (59). Deletion (del) is shown in green bar, duplication (dup) in red and inversion in blue.
