{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:55:04Z","timestamp":1791147304406,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"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":[[2013,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Mutations in\n                      <jats:italic>FLNA<\/jats:italic>\n                      (Filamin A, OMIM 300017) cause X\u2010linked periventricular nodular heterotopia (XL\u2010PNH). XL\u2010PNH\u2010associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic mosaicism have been reported to survive past infancy. Two brothers had an atypical presentation with failure to thrive and distinct facial appearance including hypertelorism. Evaluations of these brothers and their affected cousin showed systemic involvement including severe intestinal malfunction, malrotation, congenital short bowel, PNH, pyloric stenosis, wandering spleen, patent ductus arteriosus, atrial septal defect, inguinal hernia, and vesicoureteral reflux. The unanticipated finding of PNH led to\n                      <jats:italic>FLNA<\/jats:italic>\n                      testing and subsequent identification of a novel no\u2010stop\n                      <jats:italic>FLNA<\/jats:italic>\n                      mutation (c.7941_7942delCT, p.(*2648Serext*100)). Western blotting and qRT\u2010PCR of patients' fibroblasts showed diminished levels of protein and mRNA. This\n                      <jats:italic>FLNA<\/jats:italic>\n                      mutation, the most distal reported so far, causes in females classical XL\u2010PNH, but in males an unusual, multi\u2010organ phenotype, providing a unique insight into the\n                      <jats:italic>FLNA<\/jats:italic>\n                      \u2010associated phenotypes. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36109","type":"journal-article","created":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T17:20:40Z","timestamp":1374254440000},"page":"2376-2384","source":"Crossref","is-referenced-by-count":41,"title":["Novel no\u2010stop\n                    <i>FLNA<\/i>\n                    mutation causes multi\u2010organ involvement in males"],"prefix":"10.1002","volume":"161","author":[{"given":"Renske","family":"Oegema","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessie M.","family":"Hulst","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Erasmus MC\u2010Sophia Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine D.M.","family":"Theuns\u2010Valks","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Erasmus MC\u2010Sophia Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leontine M.A.","family":"van Unen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Schot","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M.S.","family":"Mancini","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marguerite E.I.","family":"Schipper","sequence":"additional","affiliation":[{"name":"Department of Pathology Erasmus MC Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie C.Y.","family":"de Wit","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Erasmus MC\u2010Sophia Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara J.","family":"Sibbles","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology Erasmus MC\u2010Sophia Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irenaeus F.M.","family":"de Coo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Erasmus 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