{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:26:30Z","timestamp":1791206790161,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,15]],"date-time":"2013-08-15T00:00:00Z","timestamp":1376524800000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a female patient with an exceedingly rare combination of achondroplasia and multiple\u2010suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (<jats:italic>FGFR3<\/jats:italic>) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of <jats:italic>FGFR1, 2, 3<\/jats:italic> and <jats:italic>TWIST1<\/jats:italic> genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36130","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T03:31:41Z","timestamp":1376623901000},"page":"2641-2644","source":"Crossref","is-referenced-by-count":16,"title":["Achondroplasia with multiple\u2010suture craniosynostosis: A report of a new case of this rare association"],"prefix":"10.1002","volume":"161","author":[{"given":"Be\u00e1ta","family":"Bessenyei","sequence":"first","affiliation":[{"name":"Clinical Genetic Center Department of Pediatrics Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Nagy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erzs\u00e9bet","family":"Balogh","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Department of Pediatrics Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Nov\u00e1k","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e1szl\u00f3","family":"Bogn\u00e1r","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alida C.","family":"Knegt","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Academic Medical Centrum Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c9va","family":"Ol\u00e1h","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Department of Pediatrics Medical and Health Science Center University of Debrecen Debrecen Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb03756.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-174"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00393.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33744"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.316"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.094086"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1597\/09-266"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh011"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1392"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.100.1.12"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-233"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000304441.99483.97"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.007"}],"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.36130","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36130","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T22:59:46Z","timestamp":1696633186000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,15]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36130"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36130","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,15]]}}}