{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:38:41Z","timestamp":1792658321037,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:00:00Z","timestamp":1696291200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acyl\u2010CoA\u2010binding domain\u2010containing protein 5\u2010related retinal dystrophy with leukodystrophy (\n                    <jats:italic>ACBD5<\/jats:italic>\n                    ) is a peroxisomal disorder due to deficiency of ACBD5. Presenting features include retinal dystrophy, progressive leukodystrophy, and ataxia. Only seven cases of ACBD5\u2010related retinal dystrophy have been reported in the literature to date, including one other case diagnosed in adulthood. Here we report a case with novel compound heterozygous\n                    <jats:italic>ACBD5<\/jats:italic>\n                    mutations, presenting with the common features of rod monochromatism and progressive leukodystrophy with spasticity and ataxia. Additional novel clinical features included head and neck tremor and ovarian insufficiency. The patient's symptoms were present since infancy, but a diagnosis was only reached in adulthood when whole exome sequencing was performed. This case, which reports two novel mutations and additional clinical manifestations, contributes to the emerging phenotype of ACBD5\u2010related retinal dystrophy with leukodystrophy, and delineation of the natural history and disease progression.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63433","type":"journal-article","created":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T23:15:48Z","timestamp":1696374948000},"page":"346-350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>ACBD5<\/scp>\n                    \u2010related retinal dystrophy with leukodystrophy due to novel mutations in\n                    <i>ACBD5<\/i>\n                    and with additional features including ovarian insufficiency"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1100-319X","authenticated-orcid":false,"given":"Laura Ivete","family":"Rudaks","sequence":"first","affiliation":[{"name":"Concord Repatriation General Hospital  Concord Australia"},{"name":"Royal North Shore Hospital  St Leonards Australia"},{"name":"Faculty of Medicine University of Sydney  Camperdown Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Triplett","sequence":"additional","affiliation":[{"name":"Concord Repatriation General Hospital  Concord Australia"},{"name":"Faculty of Medicine University of Sydney  Camperdown Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrina","family":"Morris","sequence":"additional","affiliation":[{"name":"Concord Repatriation General Hospital  Concord Australia"},{"name":"Royal North Shore Hospital  St Leonards Australia"},{"name":"Faculty of Medicine University of Sydney  Camperdown Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Reddel","sequence":"additional","affiliation":[{"name":"Concord Repatriation General Hospital  Concord Australia"},{"name":"Faculty of Medicine University of Sydney  Camperdown Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Worgan","sequence":"additional","affiliation":[{"name":"Concord Repatriation General Hospital  Concord Australia"},{"name":"Faculty of Medicine University of Sydney  Camperdown Australia"},{"name":"Royal Prince Alfred Hospital  Camperdown 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