{"entity": "publication", "iuid": "aa4cf072c5df4392878965c10e6d62e4", "timestamp": "2026-09-26T23:33:07.994Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/aa4cf072c5df4392878965c10e6d62e4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/aa4cf072c5df4392878965c10e6d62e4"}}, "title": "A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.", "authors": [{"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0000-0002-4018-5551", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bec23259b4834998952ec6aa9a44a778.json"}}, {"family": "Croft", "given": "Brittany", "initials": "B"}, {"family": "Hailer", "given": "Yasmin D", "initials": "YD"}, {"family": "Liminga", "given": "Gunnar", "initials": "G"}, {"family": "Arvidsson", "given": "Carl-G\u00f6ran", "initials": "CG"}, {"family": "Harley", "given": "Vincent R", "initials": "VR"}, {"family": "Stattin", "given": "Eva-Lena", "initials": "EL", "orcid": "0000-0002-9661-2591", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/16d5e55a7d854bea9a7924fef96105b4.json"}}], "type": "case reports", "published": "2021-02-00", "journal": {"title": "Clin. Genet.", "issn": "1399-0004", "volume": "99", "issue": "2", "pages": "325-329", "issn-l": "0009-9163"}, "abstract": "Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.", "doi": "10.1111/cge.13880", "pmid": "33174625", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7839447"}], "notes": [], "created": "2026-09-23T12:53:34.566Z", "modified": "2026-09-23T12:53:34.660Z"}