{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:27Z","timestamp":1786976787406,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T00:00:00Z","timestamp":1129075200000},"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":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We describe two patients who have hypochondroplasia with medial temporal lobe dysgenesis. This association has only been reported once before. Both patients had an\n                    <jats:italic>FGFR3<\/jats:italic>\n                    mutation: 1620C\u2009\u2192\u2009A, resulting in Asn540Lys. FGFR3 is expressed in the brain during development and plays a role in hippocampal formation. We suggest FGFR3 mutations might cause cerebral malformations in hypochondroplasia as well as in thanatophoric dysplasia. Further neuroimaging studies of patients with hypochondroplasia and epilepsy or developmental delay may clarify the proportion of patients with hypochondroplasia who have this pattern of central nervous system abnormalities. \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30974","type":"journal-article","created":{"date-parts":[[2005,10,12]],"date-time":"2005-10-12T16:16:57Z","timestamp":1129133817000},"page":"389-391","source":"Crossref","is-referenced-by-count":20,"title":["Medial temporal lobe dysgenesis in hypochondroplasia"],"prefix":"10.1002","volume":"138A","author":[{"given":"Peter","family":"Kannu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian M","family":"Hayes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Mandelstam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo","family":"Donnan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,10,12]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-357"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1996.tb56257.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10092"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<401::AID-AJMG3>3.0.CO;2-C"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10171"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/133.1.95"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.327"},{"key":"e_1_2_4_9_1","first-page":"1670","article-title":"Anterior Temporal Changes on MR Images of Children with Hippocampal Sclerosis: An Effect of Seizures on the Immature Brain? AJNR","volume":"24","author":"Mitchell A","year":"2003","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.749"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1789.2001.00386.x"}],"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.30974","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30974","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:37:18Z","timestamp":1697650638000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30974"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,10,12]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["10.1002\/ajmg.a.30974"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30974","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,10,12]]}}}