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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.
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
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PubType: Academic Journal
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  Data: <searchLink fieldCode="AU" term="%22Amini+MJ%22">Amini MJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hajishah+H%22">Hajishah H</searchLink>; Student Research Committee, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran. hajishah.hamed@gmail.com.<br /><searchLink fieldCode="AU" term="%22Noorian+S%22">Noorian S</searchLink>; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran.<br /><searchLink fieldCode="AU" term="%22Kazemi+D%22">Kazemi D</searchLink>; Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran.
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  Data: <searchLink fieldCode="JN" term="%22101293382%22">Journal of medical case reports</searchLink> [J Med Case Rep] 2026 May 11; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 May 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101293382 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1752-1947 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217521947%22">17521947 </searchLink><i>NLM ISO Abbreviation: </i>J Med Case Rep <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1186/s13256-026-06106-8
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      – Code: eng
        Text: English
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      – TitleFull: Spondylo-ocular syndrome: xylosyltransferase 2 gene mutation and clinical observations-a case report.
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            NameFull: Amini MJ
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            NameFull: Hajishah H
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            – D: 11
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              Text: 2026 May 11
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              Y: 2026
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