Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.
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| Title: | Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder. |
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| Authors: | Komatsu K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Sugie A; Brain Research Institute, Niigata University, Niigata, Japan. sugie@kit.ac.jp., Nitta Y; Brain Research Institute, Niigata University, Niigata, Japan., Osaka J; Brain Research Institute, Niigata University, Niigata, Japan., Mansoor Hussain UH; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Kubota M; Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan., Shimozawa N; Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan., Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., J G Zwijnenburg P; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Boschann F; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. sb8901@cc.saga-u.ac.jp., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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