{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T20:10:07Z","timestamp":1791231007922,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2008,7,18]],"date-time":"2008-07-18T00:00:00Z","timestamp":1216339200000},"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":[[2008,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A 5\u2010year\u2010old Mexican girl had a bilateral, systematized epidermal nevus of a non\u2010epidermolytic, non\u2010organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in\n                    <jats:italic>FGFR3<\/jats:italic>\n                    , whereas in normal skin the\n                    <jats:italic>FGFR3<\/jats:italic>\n                    wild\u2010type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the\n                    <jats:italic>FGFR3<\/jats:italic>\n                    mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes. \u00a9 2008 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.32429","type":"journal-article","created":{"date-parts":[[2008,7,18]],"date-time":"2008-07-18T16:37:45Z","timestamp":1216399065000},"page":"2275-2279","source":"Crossref","is-referenced-by-count":50,"title":["An epidermal nevus syndrome with cerebral involvement caused by a mosaic\n                    <i>FGFR3<\/i>\n                    mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Alejandro","family":"Garc\u00eda\u2010Vargas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Hafner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana G.","family":"P\u00e9rez\u2010Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Ximena","family":"Rodr\u00edguez\u2010Rojas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Gonz\u00e1lez\u2010Esqueda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Stoehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Hern\u00e1ndez\u2010Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudolf","family":"Happle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,8,15]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.143.9.1153"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.07869.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28163"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0705218104"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291899"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(91)70238-W"},{"key":"e_1_2_4_10_1","first-page":"175","article-title":"Epidermal nevi","volume":"18","author":"Happle R","year":"2002","journal-title":"Adv Dermatol"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700705"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20012"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.11.035"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.327"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807300292"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30974"},{"key":"e_1_2_4_17_1","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5","article-title":"Mutations in the NSDHL gene, encoding a 3\u03b2\u2010hydroxysteroid dehydrogenase, cause CHILD syndrome","volume":"90","author":"K\u00f6nig A","year":"2000","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-233"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1992.tb00623.x"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0192-07.2007"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0045-9380(75)80010-7"},{"key":"e_1_2_4_22_1","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1001\/archderm.1968.01610090045007","article-title":"The epidermal nevus syndrome","volume":"105","author":"Solomon LM","year":"1968","journal-title":"Arch Dermatol"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sder.2004.01.008"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0395-321"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.04285.x"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.21.1.23"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0736-8046.2004.21402.x"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(02)61547-6"}],"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.32429","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32429","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T03:55:47Z","timestamp":1697601347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,15]]},"references-count":27,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["10.1002\/ajmg.a.32429"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32429","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,15]]}}}