{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:11:47Z","timestamp":1759482707717},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4720,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nail\u2010patella syndrome (NPS), hereditary onycho\u2010osteodysplasia, is an autosomal dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow extension, conical posterior iliac horns, and nephropathy.<\/jats:p><jats:p>We studied the kidneys of an 18\u2010week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There was irregular thickening of basement membranes with subendothelial fibrillar electron\u2010dense deposits. Immunofluorescence showed fibrinogen deposition in glomerular basement membranes. Fibrinogen deposition <jats:italic>in utero<\/jats:italic> may ultimately lead to glomerular fibrosis and intrabasement membrane collagen deposition as seen in the adult renal lesion of this syndrome.<\/jats:p><jats:p>This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. These findings provide support for possible prenatal diagnosis of NPS by intrauterine kidney biopsy. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430408","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:43:49Z","timestamp":1118551429000},"page":"693-696","source":"Crossref","is-referenced-by-count":16,"title":["Nail\u2010Patella syndrome in a spontaneously aborted 18\u2010week fetus: Ultrastructural and immunofluorescent study of the kidneys"],"prefix":"10.1002","volume":"43","author":[{"given":"Rosa Monica","family":"Drut","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Chandra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rocco","family":"Latorraca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enid","family":"Gilbert\u2010Barness","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","first-page":"41","article-title":"Electron microscope study of renal lesions in nail\u2010patella syndrome","volume":"23","author":"Angelov A","year":"1981","journal-title":"Folia Medica"},{"key":"e_1_2_1_3_1","first-page":"350","article-title":"The glomerular basement membrane in the nail\u2010patella syndrome","volume":"92","author":"Ben\u2010Bassat M","year":"1971","journal-title":"Arch Path"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(73)90025-9"},{"key":"e_1_2_1_5_1","first-page":"210","article-title":"Renal histopathology of the nail\u2010patella syndrome in a two\u2010year\u2010old boy","volume":"29","author":"Browning MC","year":"1988","journal-title":"Clinical Nephrology"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1093\/ajcp\/54.6.845","article-title":"Ultrastructure of the kidney in the nephropathy of the nail\u2010patella syndrome","volume":"54","author":"del Pozo E","year":"1970","journal-title":"Amer J Clin Path"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0272-6386(82)80060-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284432"},{"key":"e_1_2_1_9_1","first-page":"405","article-title":"Glomerular basement membrane changes in hereditary glomerular diseases","volume":"3","author":"Gubler MC","year":"1980","journal-title":"Renal physiol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/00003086-198901000-00017","article-title":"Shoulder girdle dysplasia associated with nail\u2010patella syndrome","volume":"238","author":"Loomer RL","year":"1985","journal-title":"Clin Orthopo"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1001\/archinte.1973.00320080107015","article-title":"Nail\u2010patella syndrome: light and electron microscopic studies of the kidney","volume":"131","author":"Morita T","year":"1973","journal-title":"Arch Intern Med"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:13:40Z","timestamp":1695860020000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,7]]}},"alternative-id":["10.1002\/ajmg.1320430408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430408","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7]]}}}