{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:45Z","timestamp":1775804805478,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:00:00Z","timestamp":1762473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:00:00Z","timestamp":1762473600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01DE027091"],"award-info":[{"award-number":["R01DE027091"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R35DE027557"],"award-info":[{"award-number":["R35DE027557"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006544","name":"Ministry of Health, State of Israel","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006544","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    A recurrent de novo germline variant in the\n                    <jats:italic>MAX<\/jats:italic>\n                    gene, p.(Arg60Gln), has recently been associated with polydactyly\u2010macrocephaly syndrome in six unrelated individuals. Affected individuals presented with progressive macrocephaly, post\u2010axial polydactyly, developmental delay, autistic features and a series of craniofacial, brain, cardiac, ocular, and renal anomalies. Here, we describe two unrelated female probands with the known recurrent\n                    <jats:italic>MAX<\/jats:italic>\n                    variant, c.179G&gt;A p.(Arg60Gln), who presented with the emerging phenotypes of the\n                    <jats:italic>MAX<\/jats:italic>\n                    \u2010associated syndrome. We also propose that genitourinary abnormalities, including Mayer\u2013Rokitanski\u2013Kuster\u2010Hauser syndrome in one individual, may constitute an expansion of the known phenotype. These findings contribute to the current knowledge regarding the phenotypic spectrum of\n                    <jats:italic>MAX<\/jats:italic>\n                    \u2010associated polydactyly\u2010macrocephaly syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.70101","type":"journal-article","created":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T01:44:04Z","timestamp":1762566244000},"page":"788-795","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Detection of the Heterozygous Recurrent\n                    <scp>\n                      <i>MAX<\/i>\n                    <\/scp>\n                    p.(\n                    <scp>Arg60Gln<\/scp>\n                    ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly\u2013Macrocephaly Syndrome"],"prefix":"10.1111","volume":"109","author":[{"given":"Iftekhar A.","family":"Showpnil","sequence":"first","affiliation":[{"name":"Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neta","family":"Feinstein\u2010Goren","sequence":"additional","affiliation":[{"name":"The Institute for Rare Diseases, Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Danek Gertner Institute of Human Genetics, Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Gray Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-0941","authenticated-orcid":false,"given":"Lior","family":"Greenbaum","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics, Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Gray Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortal","family":"Barel","sequence":"additional","affiliation":[{"name":"Genomic Unit, Sheba Cancer Research Center Sheba Medical Center  Tel Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3204-3067","authenticated-orcid":false,"given":"Daniel C.","family":"Koboldt","sequence":"additional","affiliation":[{"name":"Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, School of Medicine The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha A.","family":"Brugmann","sequence":"additional","affiliation":[{"name":"Division of Developmental Biology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Plastic Surgery, Department of Surgery University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn Nicole","family":"Weaver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"The Heart Institute, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4069-7778","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"},{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6017-9629","authenticated-orcid":false,"given":"Ben","family":"Pode\u2010Shakked","sequence":"additional","affiliation":[{"name":"The Institute for Rare Diseases, Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Danek Gertner Institute of Human Genetics, Sheba Medical Center  Tel Hashomer Israel"},{"name":"The Gray Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf W.","family":"Stottmann","sequence":"additional","affiliation":[{"name":"Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital  Columbus Ohio USA"},{"name":"Department of Pediatrics, School of Medicine The Ohio State University  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,7]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2006410"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)01284-9"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.11.010"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.861"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64165"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64222"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31839"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1018062"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx1153"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06957-x"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34402"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3391"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1184"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01491-9"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa913"}],"container-title":["Clinical 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