Spondylo-ocular syndrome: xylosyltransferase 2 gene mutation and clinical observations-a case report.
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| Title: | Spondylo-ocular syndrome: xylosyltransferase 2 gene mutation and clinical observations-a case report. |
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| Authors: | Amini MJ; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.; Student Research Committee, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran., Hajishah H; Student Research Committee, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran. hajishah.hamed@gmail.com., Noorian S; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran., Kazemi D; Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran. |
| Source: | Journal of medical case reports [J Med Case Rep] 2026 May 11; Vol. 20 (1). Date of Electronic Publication: 2026 May 11. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1752-1947 |
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| DOI: | 10.1186/s13256-026-06106-8 |
