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Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China.

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Title: Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China.
Authors: Zhu L; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Hu S; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Jiang X; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Gu R; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Wang Y; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Zhang S; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China., Peng F; Weifang Key Laboratory of Collaborative Innovation of Intelligent Diagnosis and Treatment and Molecular Diseases, School of Basic Medical Sciences, Shandong Second Medical University, Weifang, China., Ma X; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
Source: Frontiers in genetics [Front Genet] 2026 Jul 02; Vol. 17, pp. 1842902. Date of Electronic Publication: 2026 Jul 02 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China.
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  Data: <searchLink fieldCode="AU" term="%22Zhu+L%22">Zhu L</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Hu+S%22">Hu S</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Jiang+X%22">Jiang X</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Gu+R%22">Gu R</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Zhang+S%22">Zhang S</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Peng+F%22">Peng F</searchLink>; Weifang Key Laboratory of Collaborative Innovation of Intelligent Diagnosis and Treatment and Molecular Diseases, School of Basic Medical Sciences, Shandong Second Medical University, Weifang, China.<br /><searchLink fieldCode="AU" term="%22Ma+X%22">Ma X</searchLink>; Senior Department of Pediatrics, The Seventh Medical Center of Chinese PLA General Hospital, Beijing, China.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Jul 02; Vol. 17, pp. 1842902. <i>Date of Electronic Publication: </i>2026 Jul 02 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fgene.2026.1842902
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      – Code: eng
        Text: English
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      – TitleFull: Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China.
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            NameFull: Zhu L
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            NameFull: Hu S
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            – D: 02
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              Text: 2026 Jul 02
              Type: published
              Y: 2026
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              Value: 17
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