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We report an additional patient carrying a homozygous <jats:italic>PCDH12<\/jats:italic> frameshift, whose anamnesis combines the most recurrent DMJDS1 clinical features, that is, global developmental delay, microcephaly, and ataxia, with exudative vitreoretinopathy. This case and previously published DMJDS1 patients presenting with nonspecific visual impairments and ophthalmic disorders suggest that ophthalmic alterations are an integral part of clinical features associated with <jats:italic>PCDH12<\/jats:italic> loss\u2010of\u2010function.<\/jats:p>","DOI":"10.1002\/ajmg.a.62098","type":"journal-article","created":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T07:41:16Z","timestamp":1612424476000},"page":"1275-1281","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Ophthalmic phenotypes associated with biallelic loss\u2010of\u2010function <scp><i>PCDH12<\/i><\/scp> variants"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1595-4320","authenticated-orcid":false,"given":"Francesca","family":"Mattioli","sequence":"first","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norine","family":"Voisin","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Egl\u0117","family":"Preik\u0161aitien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irina","family":"Kozlovskaja","sequence":"additional","affiliation":[{"name":"Center of Eyes Diseases Vilnius University Hospital Santaros Klinikos  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidutis","family":"Ku\u010dinskas","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine Vilnius University  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Reymond","sequence":"additional","affiliation":[{"name":"Center for Integrative Genomics University of Lausanne  Lausanne Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002704"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.230045"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky471"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2014.70"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25327"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.002"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.4161\/cam.5.2.14374"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw044"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000166"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2011.06.002"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.patbio.2011.11.005"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61453"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.08.024"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2012.06.020"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160325.113"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0432-0"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.28.17565"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/383202"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0541-9"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1914143116"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/5782536"},{"key":"e_1_2_9_23_1","first-page":"bcr2014206525","article-title":"Unilateral persistent hyperplastic primary vitreous: Intensive management approach with excellent outcome beyond visual maturation","volume":"2015","author":"Yusuf I. 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