{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:39:10Z","timestamp":1792658350353,"version":"4.5.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report on two patients with four\u2010limb postaxial polydactyly and a recurrent de novo missense variant (c.179G&gt;A) in the\n                    <jats:italic>MAX<\/jats:italic>\n                    gene. This variant has been previously reported in four other cases of polydactyly, progressive macrocephaly, and ophthalmologic abnormalities. Our two cases represent the fifth and sixth known occurrences of this apparently rare genetic disorder. In addition to the previously reported findings, our patients exhibit novel clinical features, including orofacial clefting, congenital heart defects (coarctation of the aorta, secundum atrial septal defect), natal teeth, and sacrococcygeal teratoma. The present study emphasizes the importance of genetic testing in patients presenting with polydactyly and associated anomalies. These cases support the pathogenicity of the recurrent\n                    <jats:italic>MAX<\/jats:italic>\n                    c.179G&gt;A (p.Arg60Gln) variant and significantly broaden the phenotypic spectrum of polydactyly\u2013macrocephaly syndrome\/MAX\u2010related disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64222","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T09:31:03Z","timestamp":1755077463000},"page":"178-184","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["MAX\u2010Related Disorder: Expanding the Phenotype of the Recurrent p.\n                    <scp>Arg60Gln<\/scp>\n                    Variant"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3598-460X","authenticated-orcid":false,"given":"Adriana","family":"Gomes","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Dysmorphology\/Genetics Rady Children's Hospital San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0746-1278","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mart\u00edn\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California  San Diego California USA"},{"name":"Division of Dysmorphology\/Genetics Rady Children's Hospital San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil M.","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia 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