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Moreover, a few patients with retinal dystrophy and leukodystrophy caused by pathogenic variants in <jats:italic>ACBD5<\/jats:italic> have been recently introduced. Here, we present a 36\u2010year\u2010old female with retinal dystrophy, leukodystrophy, and psychomotor regression due to a novel homozygous variant in <jats:italic>ACBD5<\/jats:italic>. Our study adds to the growing knowledge of this peroxisomal disorder by providing phenotypic details of the first adult patient.<\/jats:p>","DOI":"10.1002\/ajmg.a.62073","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T04:57:38Z","timestamp":1610686658000},"page":"1236-1241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel <scp>ACBD5<\/scp> variant: A case report and review of literature"],"prefix":"10.1002","volume":"185","author":[{"given":"Michelle","family":"Bartlett","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"},{"name":"University of Washington Medical Center  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nima","family":"Nasiri","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena","family":"Pressman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guney","family":"Bademci","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5484-5186","authenticated-orcid":false,"given":"Irman","family":"Forghani","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Miami Miller School of Medicine  Miami Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.144105.112"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.05.008"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201607055"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104132"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50957"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0076-9"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201608128"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2020.118675"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.03.012"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2015.04.001"},{"key":"e_1_2_8_12_1","volume-title":"GeneReviews [Internet]","author":"Raymond G. 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