{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T23:49:44Z","timestamp":1777765784837,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,31]],"date-time":"2018-07-31T00:00:00Z","timestamp":1532995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007457","name":"JPB Foundation","doi-asserted-by":"publisher","award":["5T32HL007854\u201022"],"award-info":[{"award-number":["5T32HL007854\u201022"]}],"id":[{"id":"10.13039\/100007457","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Kleefstra Syndrome is a rare genetic disorder caused by mutations in <jats:italic>EHMT1<\/jats:italic>, Euchromatin Histone Methyl Transferase 1, or deletions encompassing <jats:italic>EHMT1<\/jats:italic> on 9q34.3. Congenital heart defects are among the major findings in patients with 9q34.3 microdeletion\/Kleefstra Syndrome along with recognizable facial appearance, developmental delay\/intellectual disability including severely delayed or absent speech, hypotonia, seizures, behavioral and sleep abnormalities. Pulmonary hypertension (PH) is a rare condition associated with increased pulmonary artery and right heart pressures that can lead to right heart failure and death if untreated. PH can be idiopathic, heritable, or associated with co\u2010morbid conditions including congenital heart disease (CHD), lung diseases and other metabolic disorders. Genetic factors play important roles in heritable and idiopathic PH development and are particularly relevant but more diverse in etiology in children. PH is also reported in some chromosomal disorders such as Down syndrome in which congenital heart defects are common; however, PH has rarely been reported in patients with 9q34.3 microdeletion\/Kleefstra Syndrome. Here, we present three patients with 9q34.3 microdeletions with CHD and PH along with review of five similar cases reported in the literature and discuss the potential association of PH with Kleefstra syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.38852","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T11:35:08Z","timestamp":1533123308000},"page":"1773-1777","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Pulmonary hypertension in patients with 9q34.3 microdeletion\u2010associated Kleefstra syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6461-0957","authenticated-orcid":false,"given":"Volkan","family":"Okur","sequence":"first","affiliation":[{"name":"Department of Pediatrics Columbia University New York New 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