{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:48:30Z","timestamp":1788871710087,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"I-CORE Program of the Planning and Budgeting Committee, the Israel Science Foundation","award":["41\/11"],"award-info":[{"award-number":["41\/11"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above\u2010mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G\u2009&gt;\u2009T (p.C181F) apparently mutation in the\n                      <jats:italic>TSPAN12<\/jats:italic>\n                      gene that segregated with the ocular disease in the family. The\n                      <jats:italic>TSPAN12<\/jats:italic>\n                      gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra\u2010familial clinical variability caused by a single mutation in the\n                      <jats:italic>TSPAN12<\/jats:italic>\n                      gene underscores the complicated phenotype\u2010genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin\/\u03b2\u2010catenin signaling pathway. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36739","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T16:44:27Z","timestamp":1411404267000},"page":"2996-3002","source":"Crossref","is-referenced-by-count":21,"title":["Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra\u2010familial phenotypic variability"],"prefix":"10.1002","volume":"164","author":[{"given":"Moran","family":"Gal","sequence":"first","affiliation":[{"name":"The Mina and Everard Goodman Faculty of Life Sciences Bar\u2010Ilan University Ramat\u2010Gan Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erez 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