{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:22:02Z","timestamp":1791400922918,"version":"4.3.3"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (\n                    <jats:italic>SRCAP<\/jats:italic>\n                    ) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2018-0005","type":"journal-article","created":{"date-parts":[[2018,10,31]],"date-time":"2018-10-31T05:31:23Z","timestamp":1540963883000},"page":"83-86","source":"Crossref","is-referenced-by-count":8,"title":["Floating-Harbor syndrome: Presentation of the first Romanian patient with a\n                    <i>SRCAP<\/i>\n                    mutation and review of the literature"],"prefix":"10.2478","volume":"21","author":[{"given":"M","family":"Budisteanu","sequence":"first","affiliation":[{"name":"Professor Dr. Alex Obregia Clinical Hospital of Psychiatry , Bucharest , Romania"},{"name":"Victor Babes National Institute of Pathology , Bucharest , Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"B\u00f6gershausen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , University Medical Center G\u00f6ttingen , G\u00f6ttingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SM","family":"Papuc","sequence":"additional","affiliation":[{"name":"Victor Babes National Institute of Pathology , Bucharest , Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Moosa","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , University Medical Center G\u00f6ttingen , G\u00f6ttingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Thoenes","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , University of K\u00f6ln , K\u00f6ln , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Riga","sequence":"additional","affiliation":[{"name":"Professor Dr. Alex Obregia Clinical Hospital of Psychiatry , Bucharest , Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Arghir","sequence":"additional","affiliation":[{"name":"Victor Babes National Institute of Pathology , Bucharest , Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Wollnik","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics , University Medical Center G\u00f6ttingen , G\u00f6ttingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,10,29]]},"reference":[{"key":"2026042718402997275_j_bjmg-2018-0005_ref_001_w2aab2b8ab1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, et al. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome) J Pediatr. 1988; 113(4): 703-706.","DOI":"10.1016\/S0022-3476(88)80384-6"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_002_w2aab2b8ab1b7b1ab2b1b2Aa","unstructured":"Pelletier G, Feingold M. Case report 1. In: Bergsma D, Eds. Syndrome Identification. White Plains (NY, USA): National Foundation-March of Dimes. 1973;1(1):8-9."},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_003_w2aab2b8ab1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Leisti J, Hollister DW, Rimoin DL. The Floating-Harbor syndrome. Birth Defects Orig Artic Ser. 1975; 11(5): 305.","DOI":"10.1016\/S0140-6736(75)92351-X"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_004_w2aab2b8ab1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, et al. Mutations in SRCAP encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012; 90(2): 308-313.","DOI":"10.1016\/j.ajhg.2011.12.001"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_005_w2aab2b8ab1b7b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, et al. Not all Floating-Harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat. 2013; 34(1): 88-92.","DOI":"10.1002\/humu.22216"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_006_w2aab2b8ab1b7b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, et al. The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013; 8:63.","DOI":"10.1186\/1750-1172-8-63"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_007_w2aab2b8ab1b7b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, et al. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet 2014; 85(5): 498-499.","DOI":"10.1111\/cge.12199"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_008_w2aab2b8ab1b7b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Seifert W, Meinecke P, Kr\u00fcger G, Rossier E, Heinritz W, W\u00fcsthof A. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC Med Genet. 2014; 15: 127.","DOI":"10.1186\/s12881-014-0127-0"},{"key":"2026042718402997275_j_bjmg-2018-0005_ref_009_w2aab2b8ab1b7b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Lacombe D, Patton M A, Elleau C, Battin J. Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr. 1995; 154(8): 658-661.","DOI":"10.1007\/BF02079072"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/bjmg\/21\/1\/article-p83.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2018-0005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:10:20Z","timestamp":1777327820000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2018-0005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,1]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,10,29]]},"published-print":{"date-parts":[[2018,10,29]]}},"alternative-id":["10.2478\/bjmg-2018-0005"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2018-0005","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,1]]}}}