Article

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 phenotype

2022-08-29

Abstract excerpt

<h4>Objective: </h4> We describe a fetus with a 2.12-Mb in 16q terminal deletion which associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) and lymphedema–distichiasis syndrome (LDS); we also review other similar published studies and discuss the genetype-phenotype correlation. <h4>Methods: </h4>: Amniotic fluid of the fetus was collected for karyotype analysis and copy numbe...

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Literature Corpus work: f72f9a7d-1862-59f3-9d2c-5f5837451c4a
DOI: 10.21203/rs.3.rs-1992418/v1

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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 phenotypeDOI 10.21203/rs.3.rs-1992418/v1Read

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