{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:57:54Z","timestamp":1787497074529,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes. Among them,\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    is associated with a recessive syndrome leading to cardiac anomalies with skin, teeth, and hair abnormalities. Fifteen patients have been described so far. We report a patient born to unrelated parents with early\u2010onset and progressive DCM, skin appendage anomalies, and an anorectal anomaly. Her late brother shared the same phenotype. Exome sequencing revealed biallelic loss\u2010of\u2010function (LoF) variants of\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    in the proband, also present in her affected brother. To our knowledge, anorectal anomalies had never been previously described in\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    mutated individuals. As exome sequencing did not identify any other candidate variant to explain this malformation, this feature may expand the phenotype of\n                    <jats:italic>PPP1R13L<\/jats:italic>\n                    LoF disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63932","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T10:04:48Z","timestamp":1732356288000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["An Extended Phenotype of\n                    <i>PPP1R13L<\/i>\n                    Cardiocutaneous Syndrome"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9386-730X","authenticated-orcid":false,"given":"Alicia","family":"Coudert","sequence":"first","affiliation":[{"name":"Genetic, Genomic and Procreation Department CHU Grenoble Alpes  Grenoble 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu","family":"Harbuz","sequence":"additional","affiliation":[{"name":"Genetic, Genomic and Procreation Department CHU Grenoble Alpes  Grenoble France"},{"name":"Institute for Advanced Biosciences Inserm U 1209, CNRS UMR 5309, University of Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Bouvagnet","sequence":"additional","affiliation":[{"name":"CPDP, H\u00f4pital MFME CHU de la Martinique  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Yves","family":"Rabattu","sequence":"additional","affiliation":[{"name":"Anatomical Laboratory LADAF, Grenoble University Hospital, University of Grenoble Alpes  Grenoble France"},{"name":"Department of Pediatric Surgery, Children's Hospital University Hospital of Grenoble  Grenoble 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