{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T18:49:53Z","timestamp":1778006993929,"version":"3.51.4"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,22]],"date-time":"2020-07-22T00:00:00Z","timestamp":1595376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the <jats:italic>COL18A1<\/jats:italic> gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant in <jats:italic>COL18A1<\/jats:italic>, c.4224_4225delinsC, p.Pro1411Leufs*35.<\/jats:p>","DOI":"10.1002\/ajmg.a.61760","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T05:59:19Z","timestamp":1595483959000},"page":"2239-2242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Knobloch syndrome in a patient from Chile"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6854-095X","authenticated-orcid":false,"given":"Nicole","family":"Nakousi\u2010Capurro","sequence":"first","affiliation":[{"name":"Medical Genetics Section Hospital Cl\u00ednico de la Universidad de Chile Jos\u00e9 Joaqu\u00edn Aguirre  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Huserman","sequence":"additional","affiliation":[{"name":"Medical Genetics 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Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Pizarro","sequence":"additional","affiliation":[{"name":"Radiology Department Hospital Cl\u00ednico de la Universidad de Chile Jos\u00e9 Joaqu\u00edn Aguirre  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristian","family":"Quezada","sequence":"additional","affiliation":[{"name":"Radiology Department Hospital Cl\u00ednico de la Universidad de Chile Jos\u00e9 Joaqu\u00edn Aguirre  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Cea","sequence":"additional","affiliation":[{"name":"School of Medical Technology, Facultad de Medicina Universidad de Chile  Santiago 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