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A newly described syndromic disorder, Polydactyly\u2010Macrocephaly Syndrome (PMS), caused by a recurrent\n                    <jats:italic>de novo<\/jats:italic>\n                    variant in the\n                    <jats:italic>MAX<\/jats:italic>\n                    gene, has been reported in three individuals aged between 0 and 7\u2009years. Here, we report a 19\u2010year\u2010old male with clinical follow\u2010ups in our genetics unit since birth who carries the same recurrent\n                    <jats:italic>MAX<\/jats:italic>\n                    gene variant, along with glucose\u20106\u2010phosphate dehydrogenase (G6PD) deficiency as a concurrent condition. Our findings provide valuable longitudinal insights into PMS variable expressivity and natural history and reinforce the recurrence of the c.179G&gt;A (p.Arg60Gln) variant in all cases reported so far.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64165","type":"journal-article","created":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T08:04:48Z","timestamp":1751616288000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Longitudinal Insights Into Polydactyly\u2010Macrocephaly Syndrome: A Case Report of an Adult With a Recurrent\n                    <scp>\n                      <i>MAX<\/i>\n                    <\/scp>\n                    Variant"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-1065-8298","authenticated-orcid":false,"given":"Reyner S.","family":"de Oliveira","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o Em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Cl\u00ednica, Faculdade de Medicina Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina F.","family":"Henriques","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Morfologia Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3881-4507","authenticated-orcid":false,"given":"Samyra E.","family":"Lima","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Morfologia Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara S.","family":"Cordoba","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aline","family":"Pic\u2010Taylor","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Morfologia Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silviene F.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Morfologia Instituto de Ci\u00eancias Biol\u00f3gicas, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"Juliana F.","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010Gradua\u00e7\u00e3o Em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Cl\u00ednica, Faculdade de Medicina Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Hospital Universit\u00e1rio, Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Instituto Nacional de Doen\u00e7as Raras (InRaras), Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.41"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2006410"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41571\u2010021\u201000549\u20102"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.16.1.653"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.11.010"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102011\u2010100223"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsa1507092"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31853"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12863\u2010017\u20100479\u20105"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.02.048"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40651"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2209046"}],"container-title":["American 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