Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

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New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

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