{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:01:20Z","timestamp":1791475280225,"version":"4.3.4"},"reference-count":40,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T00:00:00Z","timestamp":1745539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/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":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Genitopatellar syndrome (GPS) and Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in <jats:italic>KAT6B<\/jats:italic>. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype. In the present study, we describe seven patients, four with a clinical diagnosis of SBBYSS and three presenting with an intermediate phenotype. All patients carried <jats:italic>de novo<\/jats:italic> pathogenic variants in <jats:italic>KAT6B<\/jats:italic> that were identified by exome sequencing. Five variants were novel. We provide both molecular and clinical findings, highlighting the previously undescribed association with two additional features: partial penoscrotal transposition and hypopigmented macules. We performed a review of the literature, listing the clinical features of 152 patients described in 33 papers, with a molecularly confirmed diagnosis of <jats:italic>KAT6B<\/jats:italic>\u2010related disorders, reporting the frequency of each clinical feature detected in patients diagnosed with SBBYSS and GPS. The present work provides new insights into the phenotype associated with \u201c<jats:italic>KAT6B<\/jats:italic>\u2010related disorders\u201d, expanding the spectrum of features that can lead to a clinical suspicion of these conditions, also guiding the molecular investigations.<\/jats:p>","DOI":"10.1002\/ajmg.a.64100","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T09:09:15Z","timestamp":1745572155000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Characterization of Seven Pediatric Patients Diagnosed With <scp><i>KAT6B<\/i><\/scp>\u2010Related Disorders: Case Series and Review of the Literature"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2404-2806","authenticated-orcid":false,"given":"Vittorio","family":"Maglione","sequence":"first","affiliation":[{"name":"Department of Maternal and Child Health Policlinico Umberto I, 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