{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T11:40:12Z","timestamp":1697888412714},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7154,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an 11 1\/2\u2010year\u2010old boy with neurofibromatosis and the fragile\u2010X syndrome. Clinical manifestation of neurofibromatosis included multiple cafe\u2010au\u2010lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile\u2010X syndrome manifests itself as mental retardation with behavior problems, macroorchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins.<\/jats:p><jats:p>This seems to be the first reported occurrence of the fragile\u2010X syndrome with another inherited disease.<\/jats:p>","DOI":"10.1002\/ajmg.1320220315","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:00:52Z","timestamp":1118520052000},"page":"571-575","source":"Crossref","is-referenced-by-count":7,"title":["Neurofibromatosis and fragile\u2010X syndrome in the same patient"],"prefix":"10.1002","volume":"22","author":[{"given":"Joyce A.","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Wray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Michalski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00965.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970410010002"},{"key":"e_1_2_1_4_1","volume-title":"A clinical, pathological, and genetic study of multiple neurofibromatosis","author":"Crowe FW","year":"1956"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80472-3"},{"key":"e_1_2_1_6_1","first-page":"XIVS","article-title":"Treatment of X\u2010linked mental retardation. Workshop session number 6","volume":"36","author":"Hagerman RJ","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170106"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/21548331.1981.11946863"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282817"},{"key":"e_1_2_1_10_1","first-page":"96S","article-title":"Transmission of the fragile\u2010X syndrome through unaffected carrier males","volume":"36","author":"Howard\u2010Peebles PN","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070408"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90991-6"},{"key":"e_1_2_1_13_1","first-page":"231","article-title":"A marker X chromosome","volume":"21","author":"Lubs HA","year":"1969","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295459"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274199"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170105"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170103"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198112313052704"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.877551"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970410007001"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320220315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320220315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T20:16:28Z","timestamp":1697832988000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320220315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,11]]},"references-count":19,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1985,11]]}},"alternative-id":["10.1002\/ajmg.1320220315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320220315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,11]]}}}