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Novel parent-of-origin-specific differentially methylated loci on chromosome 16

8 Apr 2019

Abstract excerpt

BACKGROUND: Congenital malformations associated with maternal uniparental disomy of chromosome 16, upd(16)mat, resemble those observed in newborns with the lethal developmental lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Interestingly, ACDMPV-causative deletions, involving FOXF1 or its lung-specific upstream enhancer at 16q24.1, arise almost exclusively on the...

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PMID: 30961659
DOI: 10.1186/s13148-019-0655-8

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