{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:51Z","timestamp":1787014011654,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T00:00:00Z","timestamp":1743552000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Aarskog\u2010Scott syndrome (AAS, MIM#305400) is an X\u2010linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations. AAS is attributed to pathogenic variants in\n                    <jats:italic>FGD1<\/jats:italic>\n                    , and ~60 patients with a genetic diagnosis have been reported to date. We hereby present a molecularly confirmed cohort of 14 male AAS patients from 13 families. Among 14 patients, 12 were referred during childhood, while two were referred at adulthood due to infertility. Six out of 11 patients with available records had antenatal manifestations, comprising shortened tubular bones, growth restriction, polyhydramnios, pes equinovarus, increased nuchal translucency, fetal hypokinesia, echogenic intracardiac focus, and ambiguous genitalia. In addition to well\u2010described AAS findings, distinctive features observed in multiple patients included variable skin findings (\n                    <jats:italic>n\u2009=<\/jats:italic>\n                    \u20095), renal malformations (\n                    <jats:italic>n\u2009=<\/jats:italic>\n                    \u20092), muscular build (\n                    <jats:italic>n\u2009=<\/jats:italic>\n                    \u20092), and infertility (\n                    <jats:italic>n\u2009=<\/jats:italic>\n                    \u20092). Cardiac (\n                    <jats:italic>n\u2009=<\/jats:italic>\n                    \u20094) and ocular manifestations (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20096) were identified at significantly higher rates than previously reported. This cohort also presents new patients with osteochondritis dissecans and oligo\/azoospermia, providing further evidence to acknowledge these once\u2010reported findings as part of the disease spectrum. Eleven different\n                    <jats:italic>FGD1<\/jats:italic>\n                    variants, including seven novel ones, were identified through targeted\n                    <jats:italic>FGD1<\/jats:italic>\n                    sequencing. Two variants were found to be recurrent, detected in two independent families. Our study provides additional insights into the clinical and genotypic landscape of AAS through the largest molecularly confirmed cohort, including two adult patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.14744","type":"journal-article","created":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T03:34:10Z","timestamp":1743564850000},"page":"334-346","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2573-6431","authenticated-orcid":false,"given":"Gozde Tutku","family":"Turgut","sequence":"first","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3172-5368","authenticated-orcid":false,"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"},{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9545-6657","authenticated-orcid":false,"given":"\u015eahin","family":"Avc\u0131","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"},{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9963-5916","authenticated-orcid":false,"given":"Tu\u011fba","family":"Kalayc\u0131","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1770-1762","authenticated-orcid":false,"given":"Ay\u00e7a Dilruba","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-3548","authenticated-orcid":false,"given":"Volkan","family":"Karaman","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2035-4338","authenticated-orcid":false,"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-499X","authenticated-orcid":false,"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Faculty of Medicine, Istanbul University  Istanbul Turkey"},{"name":"Medical Genetics Department Ko\u00e7 University School of Medicine (KUSoM)  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201081"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00101.2015"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33199"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460508"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6652957"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"5","key":"e_1_2_11_8_1","first-page":"925","article-title":"Osteochondritis Dissecans With Associated Malformations in Two Brothers. A Review of Familial Aspects","volume":"49","author":"Hanley W. B.","year":"1967","journal-title":"Journal of Bone and Joint Surgery. American Volume"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31562"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010024\u201005484\u20109"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jocs.16684"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.17352\/2640\u20107876.000004"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14924"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0014\u20105793(00)01857\u20103"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62753"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31033"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32835b6dc4"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14744","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T03:32:16Z","timestamp":1754278336000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,2]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/cge.14744"],"URL":"https:\/\/doi.org\/10.1111\/cge.14744","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14744\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14744\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14744\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,2]]},"assertion":[{"value":"2025-02-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}