{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:02:15Z","timestamp":1791475335053,"version":"4.3.4"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,25]],"date-time":"2018-01-25T00:00:00Z","timestamp":1516838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>The Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson variant of Ohdo syndrome (<jats:styled-content style=\"fixed-case\">SBBYSS<\/jats:styled-content>) and Genitopatellar syndrome (<jats:styled-content style=\"fixed-case\">GTPTS<\/jats:styled-content>) are 2 rare but clinically well\u2010described diseases caused by de novo heterozygous sequence variants in the <jats:italic><jats:styled-content style=\"fixed-case\">KAT6B<\/jats:styled-content><\/jats:italic> gene. Both phenotypes are characterized by significant global developmental delay\/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia\/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. This broad clinical overlap led some authors to propose the concept of <jats:italic><jats:styled-content style=\"fixed-case\">KAT6B<\/jats:styled-content><\/jats:italic> spectrum disorders. On the other hand, some clinical features could help to differentiate the 2 disorders. Furthermore, it is possible to establish a genotype\u2010phenotype correlation when considering the position of the sequence variant along the gene, supporting the notion of the 2 disorders as really distinct entities.<\/jats:p>","DOI":"10.1111\/cge.13127","type":"journal-article","created":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T11:42:28Z","timestamp":1504179748000},"page":"253-261","source":"Crossref","is-referenced-by-count":26,"title":["Say\u2010Barber\u2010Biesecker\u2010Young\u2010Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5712-0754","authenticated-orcid":false,"given":"F.","family":"Lonardo","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, A.O.R.N. \u201cG. 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