{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:15:27Z","timestamp":1760865327586},"reference-count":23,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T00:00:00Z","timestamp":1193875200000},"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":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. The syndrome is clinically and genetically heterogeneous (KNO1, KNO2). Previously germline mutations in <jats:italic>COL18A1<\/jats:italic> (21q22.3) were detected in some families, but in other kindreds linkage to <jats:italic>COL18A1<\/jats:italic> was excluded. We ascertained a large consanguineous family with high myopia, vitreoretinal degeneration and occipital scalp defect with autosomal recessive mode of inheritance. Due to the overlapping clinical presentation of this family with Knobloch syndrome we propose this phenotype as a type III variant of KS (KNO3). A genome wide linkage study using microsatellite markers at 10\u201320 cM interval revealed linkage to 17q11.2 with a maximum LOD scores 3.40 (\u03b8\u2009=\u20090.00) for markers D17S1307 and D17S1166. Fine mapping defined a 2.67 cM disease region between D17S1307 and D17S798. Mutation analysis of three candidate genes (<jats:italic>UNC119<\/jats:italic>, <jats:italic>MYO1D<\/jats:italic>, and <jats:italic>RAB11FIP4<\/jats:italic>) within the disease region did not identify any disease\u2010associated mutation in affected individuals. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31739","type":"journal-article","created":{"date-parts":[[2007,11,1]],"date-time":"2007-11-01T18:46:31Z","timestamp":1193942791000},"page":"2768-2774","source":"Crossref","is-referenced-by-count":15,"title":["Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2"],"prefix":"10.1002","volume":"143A","author":[{"given":"Shagufta","family":"Khaliq","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiysha","family":"Abid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominick 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