{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:13:13Z","timestamp":1782778393662,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T00:00:00Z","timestamp":1557360000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare, autosomal dominant disorder of interstitial lung development, leading to pulmonary hypertension, and death in infancy. Associated features include malformations of the heart, gastrointestinal tract, and genitourinary system. ACDMPV is caused by heterozygous variants in the <jats:italic>FOXF1<\/jats:italic> gene or microdeletions involving <jats:italic>FOXF1<\/jats:italic>. We present a male infant with ACDMPV, hypoplastic left heart sequence (HLHS), duodenal atresia, and imperforate anus due to a de novo, in frame deletion in <jats:italic>FOXF1<\/jats:italic>: c.209_214del (p.Thr70_Leu71del). Previous reports have suggested that microdeletions involving <jats:italic>FOXF1<\/jats:italic> are associated with ACDMPV with congenital heart defects, including HLHS, gastrointestinal atresias, and other anomalies; whereas likely pathogenic variants within <jats:italic>FOXF1<\/jats:italic> have not been reported with ACDMPV and HLHS. This is the first patient reported with ACDMPV, HLHS, imperforate anus, and duodenal atresia associated with a likely pathogenic variant in the <jats:italic>FOXF1<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.61162","type":"journal-article","created":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T05:14:05Z","timestamp":1557465245000},"page":"1325-1329","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within <i>FOXF1<\/i>"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2244-6201","authenticated-orcid":false,"given":"Danielle K.","family":"Bourque","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program Mount Sinai Hospital, University of Toronto  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