{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T18:59:25Z","timestamp":1775761165991,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Microdeletions of 17q12 encompassing <jats:italic>TCF2<\/jats:italic> are associated with maturity\u2010onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8\u2009Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5\u2010year\u2010old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that <jats:italic>PIGW<\/jats:italic>, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36840","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T21:01:25Z","timestamp":1416949285000},"page":"250-253","source":"Crossref","is-referenced-by-count":24,"title":["Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Carole","family":"Goumy","sequence":"first","affiliation":[{"name":"Cytog\u00e9n\u00e9tique M\u00e9dicale Univ Clermont1 UFR M\u00e9decine CHU Clermont\u2010Ferrand  CHU Estaing France"},{"name":"EA 4677 ERTICa Universit\u00e9 d'Auvergne Clermont\u2010Ferrand 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