{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T02:12:58Z","timestamp":1784945578465,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,8,6]],"date-time":"2025-08-06T00:00:00Z","timestamp":1754438400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    \u2010related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate anus without rectal fistula, and vaginal atresia. Brain imaging revealed bilateral periventricular white matter echogenicity, and echocardiography identified a muscular ventricular septal defect. Genetic testing revealed a stop\u2010loss\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    variant c.3092A&gt;T (p.Ter1031LeuextTer71), identical to the variant reported in a previous case by Harris et\u00a0al., which also presented with jejunal atresia. This case represents an additional case of UBMS with gastrointestinal anomalies and the second documented instance of small intestinal atresia associated with the c.3092A&gt;T variant in\n                    <jats:italic>PPP1R12A<\/jats:italic>\n                    , suggesting an expansion of the phenotype with gastrointestinal atresia. While brain and urogenital malformations are the hallmark features of UBMS, this case highlights gastrointestinal anomalies as an important part of the phenotypic spectrum.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64217","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T06:59:21Z","timestamp":1754549961000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Intestinal Atresia in\n                    <scp>\n                      <i>PPP1R12A<\/i>\n                    <\/scp>\n                    \u2010Related Urogenital and Brain Malformation Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3598-460X","authenticated-orcid":false,"given":"Adriana","family":"Gomes","sequence":"first","affiliation":[{"name":"Division of Genetics and Dysmorphology, Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Dysmorphology\/Genetics, Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjana","family":"Karamcheti","sequence":"additional","affiliation":[{"name":"School of Medicine University of California  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0746-1278","authenticated-orcid":false,"given":"\u00c1lvaro Mart\u00edn","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Division of Genetics and Dysmorphology, Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Dysmorphology\/Genetics, Rady Children's Hospital  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna\u2010Kaisa","family":"Niemi","sequence":"additional","affiliation":[{"name":"Division of Dysmorphology\/Genetics, Rady Children's Hospital  San Diego California USA"},{"name":"Department of Pediatrics, Division of Neonatal\u2010Perinatal Medicine and Dysmorphology\/Genetics University of California  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4833-3747","authenticated-orcid":false,"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Division of Genetics and Dysmorphology, Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Dysmorphology\/Genetics, Rady Children's Hospital  San Diego California 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