{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:22:54Z","timestamp":1791400974045,"version":"4.3.3"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T00:00:00Z","timestamp":1517356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Floating\u2010Harbor Syndrome (FHS; OMIM #136140) is an ultra\u2010rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep\u2010set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the <jats:italic>SRCAP<\/jats:italic> gene, which encodes SNF2\u2010related <jats:italic>CREBBP<\/jats:italic> activator protein. Mutations in the <jats:italic>CREBBP<\/jats:italic> gene cause Rubinstein\u2010Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel <jats:italic>SRCAP<\/jats:italic> mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38605","type":"journal-article","created":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T15:45:21Z","timestamp":1517413521000},"page":"703-706","source":"Crossref","is-referenced-by-count":9,"title":["Perthes disease: A new finding in Floating\u2010Harbor syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"first","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation University of Milan Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulietta","family":"Scuvera","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation University of Milan Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Gatti","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation University of Milan Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Tolva","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation University of Milan Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bonarrigo","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit Department of Pathophysiology and Transplantation University of Milan Fondazione IRCSS Ca' Granda Ospedale Maggiorte Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Esposito","sequence":"additional","affiliation":[{"name":"Pediatric Clinic Universit\u00e0 degli Studi di Perugia Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Genetica Medica, Dip. Scienze della Salute Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,31]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-016-2153-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03851.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03343962"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3928\/00904481-20160310-03"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-012-1893-7"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12199"},{"key":"e_1_2_7_9_1","first-page":"305","article-title":"The Floating\u2010Harbor syndrome","volume":"11","author":"Leisti J.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22216"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0110-1"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(87)90242-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103842"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22216"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-63"},{"key":"e_1_2_7_16_1","first-page":"8","article-title":"Case report 1","volume":"1","author":"Pelletier G.","year":"1973","journal-title":"Syndrome Identification"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ocl.2011.03.002"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35635"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0127-0"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833f000b"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1564571"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590313"},{"issue":"4","key":"e_1_2_7_23_1","first-page":"261","article-title":"Rubinstein\u2010Taybi syndrome in children with tethered spinal cord","volume":"105","author":"Tanaka T.","year":"2006","journal-title":"Journal of Neurosurgery"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33294"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30760"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38605","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38605","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:17:44Z","timestamp":1695539864000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38605"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,31]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1002\/ajmg.a.38605"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38605","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,31]]}}}