{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T20:30:17Z","timestamp":1792182617911,"version":"4.4.0"},"reference-count":10,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,12]]},"abstract":"<jats:p>A non-consanguineous union between two people with congenital aniridia is described which resulted in the stillbirth of a female fetus with complete absence of eyes, nose, and adrenal glands.<\/jats:p>","DOI":"10.1136\/jmg.17.6.478","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"478-480","source":"Crossref","is-referenced-by-count":42,"title":["A probable case of the homozygous condition of the aniridia gene."],"prefix":"10.1136","volume":"17","author":[{"given":"S V","family":"Hodgson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K E","family":"Saunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1980,12,1]]},"reference":[{"key":"ref_1","first-page":"389","article-title":"Congenital aniridia","volume":"12","author":"Shaw, M.W.; Falls, H.F.; Beel, J.V.","year":"1960","unstructured":"Shaw MW, Falls HF, Beel JV. Congenital aniridia. Am J Hium Genet 1960;12:389-415.","journal-title":"Am J Hium Genet"},{"issue":"65","key":"ref_2","first-page":"81","article-title":"A family study of aniridia","volume":"1961","author":"Grove, J.H.; Shaw, M.W.; Bourque, G.","unstructured":"Grove JH, Shaw MW, Bourque G. A family study of aniridia. Arch Ophthalmol 1961;65:81-94.","journal-title":"Arch Ophthalmol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1001\/archopht.1948.00900020063006","article-title":"Aniridia congenita","volume":"39","author":"Pincus, M.H.","year":"1948","unstructured":"Pincus MH. Aniridia congenita. Arch Ophthalnm.l 1948; 39:60-6.","journal-title":"Arch Ophthalnm.l"},{"key":"ref_4","first-page":"28","article-title":"A pedigree of aniridia with a discussion of germinal mosaicism in man","volume":"7","author":"Reed, T.E.; Falls, H.F.","year":"1955","unstructured":"Reed TE, Falls HF. A pedigree of aniridia with a discussion of germinal mosaicism in man. Am J Hiumii Genet 1955;7:28-38.","journal-title":"Am J Hiumii Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1016\/0002-9394(77)90139-8","article-title":"Familial aniridia with preserved ocular function","volume":"83","author":"Elsas, F.J.; Maumenee, I.H.; Kenyon, R.K.; Yoder, F.","year":"1977","unstructured":"Elsas FJ, Maumenee IH, Kenyon RK, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmnol 1977;83:718-24.","journal-title":"Am J Ophthalmnol"},{"key":"ref_6","first-page":"60","article-title":"Developmental abnormlalities of the eve","author":"1, Mann","year":"1957","unstructured":"Mann 1. Developmental abnormlalities of the eve. London: British Medical Association. 1957:60-6."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1542\/peds.61.4.604","article-title":"Chromosomal imbalance in the aniridia-Wilms' tumor association: lIp interstitial deletion","volume":"61","author":"Riccardi, V.M.; Sujansky, E.; Smith, A.C.; Francke, U.","year":"1978","unstructured":"Riccardi VM, Sujansky E, Smith AC, Francke U. Chromosomal imbalance in the aniridia-Wilms' tumor association: lIp interstitial deletion. Pediatrics 1978;61:604-10.","journal-title":"Pediatrics"},{"key":"ref_8","first-page":"83","article-title":"Linkage assignment of aniridia to chromosome 1. Al??","volume":"27","author":"Sloderbeck, J.D.; Maumenee, I.H.; Elsas, F.E.","year":"1975","unstructured":"Sloderbeck JD, Maumenee IH, Elsas FE, et al. Linkage assignment of aniridia to chromosome 1. Al?? J Horm Genet 1975;27:83A.","journal-title":"J Horm Genet"},{"key":"ref_9","article-title":"We recently evaluated a patient with craniosynostosis of the sagittal suture and syndactyly and found an 1 1q23-*qter deletion. Since neither of these two predominant features has been previously reported in association with this chromosomal anomaly, this case significantly expands the clinical spectrum of this 'syndrome'","unstructured":"We recently evaluated a patient with craniosynostosis of the sagittal suture and syndactyly and found an 1 1q23-*qter deletion. Since neither of these two predominant features has been previously reported in association with this chromosomal anomaly, this case significantly expands the clinical spectrum of this 'syndrome'."},{"key":"ref_10","article-title":"Supported in part by grants HD-05615 and HD-04612 from the National Institute of Child Health and Human Development Received for publication","year":"1980","unstructured":"*Supported in part by grants HD-05615 and HD-04612 from the National Institute of Child Health and Human Development Received for publication 25 February 1980"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.6.478","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:00Z","timestamp":1760762400000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.6.478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,12]]},"references-count":10,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1980,12,1]]},"published-print":{"date-parts":[[1980,12]]}},"alternative-id":["10.1136\/jmg.17.6.478"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.6.478","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,12]]}}}