Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity.
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| Title: | Novel LARS2 variants in patients with Perrault syndrome: expanding the genetic spectrum and phenotypic heterogeneity. |
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| Authors: | Lin Z; Reproductive Medicine Center, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.; College of Life Sciences, University of Chinese Academy of Sciences, Huairou, Beijing, China.; BGI Genomics, Shenzhen, Guangdong, China., Xiang J; College of Life Sciences, University of Chinese Academy of Sciences, Huairou, Beijing, China.; BGI Genomics, Shenzhen, Guangdong, China.; Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan, China., Sun X; BGI Genomics, Shenzhen, Guangdong, China., Shi X; Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China., Liu X; Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China., Cai Q; Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China., Yang J; BGI Genomics, Shenzhen, Guangdong, China., Song N; BGI Genomics, Shenzhen, Guangdong, China., Ye H; BGI Genomics, Shenzhen, Guangdong, China., Xu J; BGI Genomics, Shenzhen, Guangdong, China., Peng J; BGI Genomics, Shenzhen, Guangdong, China., Ou X; Reproductive Medicine Center, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China., Sun Y; Department of Otorhinolaryngology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China., Peng Z; College of Life Sciences, University of Chinese Academy of Sciences, Huairou, Beijing, China.; BGI Genomics, Shenzhen, Guangdong, China.; Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan, China. |
| Source: | Frontiers in genetics [Front Genet] 2026 Feb 18; Vol. 17, pp. 1785502. Date of Electronic Publication: 2026 Feb 18 (Print Publication: 2026). |
| Publication Type: | 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 |
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| DOI: | 10.3389/fgene.2026.1785502 |
