{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:48:01Z","timestamp":1790837281511,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,10]],"date-time":"2020-11-10T00:00:00Z","timestamp":1604966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["FPU Ph.D. studentship"],"award-info":[{"award-number":["FPU Ph.D. studentship"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either <jats:italic>NOG<\/jats:italic>, <jats:italic>GDF5<\/jats:italic>, <jats:italic>FGF9<\/jats:italic> or <jats:italic>GDF6<\/jats:italic>. To date, only two <jats:italic>FGF9<\/jats:italic> variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report the clinical and radiological description of a young girl with a third heterozygous <jats:italic>FGF9<\/jats:italic> variant, NM_002010.2:c.427A&gt;T;p.(Asn143Tyr), which interestingly, is located at the same amino acid as the well characterized spontaneous <jats:italic>Eks<\/jats:italic> mouse variant. We also compare the genotype: phenotypes observed between humans and mice with SYNS.<\/jats:p>","DOI":"10.1111\/cge.13876","type":"journal-article","created":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T06:56:57Z","timestamp":1604386617000},"page":"309-312","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Identification of the third <scp><i>FGF9<\/i><\/scp> variant in a girl with multiple synostosis\u2013comparison of the genotype:phenotype of <scp><i>FGF9<\/i><\/scp> variants in humans and mice"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4083-3352","authenticated-orcid":false,"given":"Lucia","family":"Sentchordi\u2010Montan\u00e9","sequence":"first","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ  Madrid Spain"},{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) and ERN\u2010BOND Hospital Universitario La Paz  Madrid Spain"},{"name":"Department of Pediatrics Hospital Universitario Infanta Leonor  Madrid Spain"},{"name":"Department of Pediatrics, Faculty of Medicine Complutense University of Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1364-7586","authenticated-orcid":false,"given":"Francisca","family":"Diaz\u2010Gonzalez","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ  Madrid Spain"},{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) and ERN\u2010BOND Hospital Universitario La Paz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"C\u00e1tedra\u2010Vall\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Hospital Universitario Infanta Leonor  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics (INGEMM) Hospital Universitario La Paz, Universidad Aut\u00f3noma de Madrid, IdiPAZ  Madrid Spain"},{"name":"Skeletal dysplasia Multidisciplinary Unit (UMDE) and ERN\u2010BOND Hospital Universitario La Paz  Madrid Spain"},{"name":"Department of Pediatrics Hospital Universitario Infanta Leonor  Madrid Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/6821"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/503204"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.007"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2761"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23292"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23912"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-001-2143-6"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.316"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx029"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-02026"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01780-08"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006502200"}],"container-title":["Clinical 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