{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T15:44:16Z","timestamp":1779378256113,"version":"3.53.1"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,5,10]],"date-time":"2002-05-10T00:00:00Z","timestamp":1020988800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the fibroblast growth factor receptor genes (<jats:italic>FGFR<\/jats:italic>) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15\u2010year\u2010old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9\u201312, humero\u2010radio\u2010ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo\u2010tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G\u2009\u2192\u2009T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (<jats:italic>FGFR2<\/jats:italic>). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial\u2010skeletal\u2010dermatological syndrome due to <jats:italic>FGFR2<\/jats:italic> mutations. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10449","type":"journal-article","created":{"date-parts":[[2002,10,28]],"date-time":"2002-10-28T13:59:04Z","timestamp":1035813544000},"page":"4-8","source":"Crossref","is-referenced-by-count":25,"title":["Distinct craniofacial\u2010skeletal\u2010dermatological dysplasia in a patient with W290C mutation in <i>FGFR2<\/i>"],"prefix":"10.1002","volume":"113","author":[{"given":"Vorasuk","family":"Shotelersuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chupong","family":"Ittiwut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumarlee","family":"Srivuthana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charan","family":"Mahatumarat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukalaya","family":"Lerdlum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suthipong","family":"Wacharasindhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,5,10]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"491","article-title":"FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson\u2010Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing","volume":"58","author":"Meyers GA","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","first-page":"6117","volume-title":"The metabolic and molecular bases of inherited disease","author":"Muenke M","year":"2001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.1077"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1229"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<252::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_5_8_1","first-page":"425","article-title":"A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene","volume":"32","author":"Shotelersuk V","year":"2001","journal-title":"Southeast Asian J Trop Med Public Health"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.744"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(99)00047-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10449","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10449","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T20:21:21Z","timestamp":1696710081000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,5,10]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,11,15]]}},"alternative-id":["10.1002\/ajmg.10449"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10449","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,5,10]]}}}