{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T23:49:58Z","timestamp":1773272998523,"version":"3.50.1"},"reference-count":13,"publisher":"SLACK, Inc.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Surg Lasers Imaging Retina"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>\n            Familial exudative vitreoretinopathy (FEVR) is a rare hereditary ocular disorder characterized by incomplete or abnormal development of peripheral retinal vasculature. The genes responsible for this disorder are associated with the wingless-related integration site (Wnt) signaling pathway, a critical pathway for the development of normal retinal vasculature. A pathogenic variant in any one of these genes may disrupt retinal vasculogenesis. Furthermore, the type and number of pathogenic variants may influence the severity of disease and clinical course. Here, the authors identify a novel pathogenic variant in the\n            <jats:italic>NDP<\/jats:italic>\n            gene, not previously described in the literature.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              [\n              <jats:italic>Ophthalmic Surg Lasers Imaging Retina.<\/jats:italic>\n              2019;50:120\u2013124.]\n            <\/jats:bold>\n          <\/jats:p>","DOI":"10.3928\/23258160-20190129-10","type":"journal-article","created":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T16:37:34Z","timestamp":1550248654000},"page":"120-124","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Pathogenic Variant in\n            <i>NDP<\/i>\n            Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy"],"prefix":"10.3928","volume":"50","author":[{"given":"Nathan L.","family":"Scott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly D.","family":"Tran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan F.","family":"Russell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John W.","family":"Hinkle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda A.","family":"Cernichiaro-Espinosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Lauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audina M.","family":"Berrocal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2308","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1220864110"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.016"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.012"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21250"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2014.70"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.06.016"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00216-8"},{"key":"e_1_3_1_9_2","first-page":"5977","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Berger W","year":"2001","unstructured":"Berger W, Ropers HH. Norrie disease. In: , Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw Hill: New York; 2001;5977\u20135985."},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2031"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1997.01100150653015"},{"key":"e_1_3_1_12_2","first-page":"501","article-title":"Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity","volume":"11","author":"Hutcheson KA","year":"2005","unstructured":"Hutcheson KA, Paluru PC, Bernstein SL, et al. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity. Mol Vis. 2005;11:501\u2013508.","journal-title":"Mol Vis"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-21324"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1177\/112067219900900312"}],"container-title":["Ophthalmic Surgery, Lasers and Imaging Retina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.healio.com\/doiresolver?doi=10.3928\/23258160-20190129-10","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T04:45:57Z","timestamp":1683089157000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.healio.com\/doi\/10.3928\/23258160-20190129-10"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["10.3928\/23258160-20190129-10"],"URL":"https:\/\/doi.org\/10.3928\/23258160-20190129-10","relation":{},"ISSN":["2325-8160","2325-8179"],"issn-type":[{"value":"2325-8160","type":"print"},{"value":"2325-8179","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2]]}}}