{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:00:48Z","timestamp":1791198048876,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,26]],"date-time":"2014-04-26T00:00:00Z","timestamp":1398470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1 R01 HD055150"],"award-info":[{"award-number":["1 R01 HD055150"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1 P01 HD068250"],"award-info":[{"award-number":["1 P01 HD068250"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000850","name":"National Heart and Lung Institute","doi-asserted-by":"publisher","award":["HHSN268201100037C"],"award-info":[{"award-number":["HHSN268201100037C"]}],"id":[{"id":"10.13039\/501100000850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>\n                    Zinc finger protein, FOG2 family member 2 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) (previously named\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">FOG2<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) gene defects result in the highly morbid congenital diaphragmatic hernia (\n                    <jats:styled-content style=\"fixed-case\">CDH<\/jats:styled-content>\n                    ) in humans and animal models. In a cohort of 275\n                    <jats:styled-content style=\"fixed-case\">CDH<\/jats:styled-content>\n                    patient exomes, we estimated the prevalence of damaging\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations to be almost 5%. Genetic analysis of a multigenerational family identified a heritable intragenic\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    deletion with an estimated penetrance of 37.5%, which has important implications for genetic counseling. Similarly, a low penetrance\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    frameshift mutation was observed in a second multiplex family. Isolated\n                    <jats:styled-content style=\"fixed-case\">CDH<\/jats:styled-content>\n                    was the predominant phenotype observed in our\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation patients. Findings from the patients described herein indicate that\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">ZFPM2<\/jats:styled-content>\n                    <\/jats:italic>\n                    point mutations or deletions are a recurring cause of\n                    <jats:styled-content style=\"fixed-case\">CDH<\/jats:styled-content>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.12395","type":"journal-article","created":{"date-parts":[[2014,4,4]],"date-time":"2014-04-04T10:11:50Z","timestamp":1396606310000},"page":"362-367","source":"Crossref","is-referenced-by-count":54,"title":["Prevalence and penetrance of\n                    <i>\n                      <scp>ZFPM2<\/scp>\n                    <\/i>\n                    mutations and deletions causing congenital diaphragmatic hernia"],"prefix":"10.1111","volume":"87","author":[{"given":"M.","family":"Longoni","sequence":"first","affiliation":[{"name":"The Pediatric Surgical Research Laboratories Massachusetts General Hospital  Boston MA USA"},{"name":"Department of Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.K.","family":"Russell","sequence":"additional","affiliation":[{"name":"The Pediatric Surgical Research Laboratories Massachusetts General Hospital  Boston MA USA"},{"name":"Department of Surgery"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.A.","family":"High","sequence":"additional","affiliation":[{"name":"The Pediatric Surgical Research Laboratories Massachusetts General Hospital  Boston MA USA"},{"name":"Department of Pediatrics Harvard Medical School  Boston MA USA"},{"name":"Division of Genetics, Department of Medicine, Boston Children's Hospital  Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Darvishi","sequence":"additional","affiliation":[{"name":"Department of Pathology Harvard Medical School  Boston MA 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