Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
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| Title: | Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. |
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| Authors: | Suzuki-Ajihara S; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Saito-Tsuruoka M; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan., Harashima H; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Arai K; Hello Clinic, Saitama, Japan., Koide H; Hello Clinic, Saitama, Japan., Yatsuka Y; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Imai-Okazaki A; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Okazaki Y; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Numakura C; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Akioka Y; Department of Pediatrics, Saitama Medical University, Saitama, Japan., Ohtake A; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan. |
| Source: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Mar 17; Vol. 35, pp. 100966. Date of Electronic Publication: 2023 Mar 17 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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