{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:27:15Z","timestamp":1787239635950,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,3,30]],"date-time":"2005-03-30T00:00:00Z","timestamp":1112140800000},"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":[[2005,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in\n                    <jats:italic>DAX\u20101<\/jats:italic>\n                    gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X\u2010linked adrenal hypoplasia congenita due to a novel DAX\u20101 missense mutation. The mutation V287G affects the C\u2010terminal end of the DAX\u20101 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far. \u00a9 2005 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.30670","type":"journal-article","created":{"date-parts":[[2005,3,30]],"date-time":"2005-03-30T14:49:34Z","timestamp":1112194174000},"page":"72-74","source":"Crossref","is-referenced-by-count":4,"title":["Inappropriate tall stature and renal ectopy in a male patient with X\u2010linked congenital adrenal hypoplasia due to a novel missense mutation in the\n                    <i>DAX\u20101<\/i>\n                    gene"],"prefix":"10.1002","volume":"135A","author":[{"given":"Adriana","family":"Franzese","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Spadaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tokuo","family":"Mukai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Valerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.7.3171"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.10.3563"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118866"},{"key":"e_1_2_5_5_1","first-page":"333","article-title":"Antenatal diagnosis of fetal pelvic kidneys","volume":"83","author":"Hill LM","year":"1994","journal-title":"Obstet Gynecol"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(95)91426-9"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2003-0159"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.122044099"},{"key":"e_1_2_5_9_1","first-page":"4263","volume-title":"The metabolic and molecular bases of inherited disease","author":"McCabe ERB","year":"2001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/372672a0"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.10.3680"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.8.2666"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1225"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.2.504"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2001-011930"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-404"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.8.579"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80486-0"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/372635a0"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410x.1999.00027.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.30670","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30670","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T11:16:46Z","timestamp":1696936606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30670"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,30]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,5,15]]}},"alternative-id":["10.1002\/ajmg.a.30670"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30670","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,30]]}}}