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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ISSN:1664-8021
DOI:10.3389/fgene.2026.1842902