{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:29:20Z","timestamp":1790710160550,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T00:00:00Z","timestamp":1764115200000},"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":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SLC30A9<\/jats:italic>\n                    mutations are linked to Birk\u2010Landau\u2010Perez syndrome, which is characterized by neurodevelopmental and renal disease, thought to result from impaired zinc homeostasis. In this report, we describe a patient with a homozygous likely pathogenic\n                    <jats:italic>SLC30A9<\/jats:italic>\n                    variant with atypical chorio\u2010retinal degeneration, suggesting retinal involvement in\n                    <jats:italic>SLC30A9<\/jats:italic>\n                    \u2010associated diseases. The patient has bilateral sensorineural hearing loss, developmental delay, intellectual disability, abnormal balance, and Tourette syndrome. Ophthalmic manifestations include vascular attenuation, optic disc pallor, and pigmentation. In addition, the patient is noted to have high myopia. Our case highlights the importance of broad genetic testing in diagnosing rare multi\u2010systemic disorders. Further research into the molecular mechanisms by which\n                    <jats:italic>SLC30A9<\/jats:italic>\n                    results in photoreceptor disease is essential to understand its role in retinal degeneration and to develop potential therapeutic strategies.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70007","type":"journal-article","created":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T11:40:40Z","timestamp":1764157240000},"page":"918-922","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Phenotype of Syndromic\n                    <scp>\n                      <i>SLC30A9<\/i>\n                    <\/scp>\n                    \u2010Associated Disease"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5470-2652","authenticated-orcid":false,"given":"Naomi E.","family":"Wagner","sequence":"first","affiliation":[{"name":"Shiley Eye 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