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Human Mutation. 2020;41:926-933. wileyonlinelibrary.com/journal/humu | AbstractSirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of sirenomelia investigated by a trio-based exome sequencing strategy. This approach identified CDX2 variants in the two

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