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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV

3 Nov 2016

Abstract excerpt

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tissue-specific enhancer region mapping 270 kb upstream of FOXF1 and involving fetal lung-expressed long non-coding RNA genes and CpG-enriched sites. Recently, we have proposed that the FOXF1 locus at...

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PMID: 27822317
DOI: 10.1186/s13148-016-0278-2

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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPVPMID 27822317Read ↗

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Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema–distichiasis syndrome: relationship to phenotypeSemantic proximity Read ↗

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