Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
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| Title: | Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities. |
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| Authors: | Li S; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan., Takada S; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Salem AMS; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fukai R; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Medical Science Services, IQVIA Services Japan G.K., Tokyo, Japan., Ohshima T; Department of Life Science and Medical Bioscience, Waseda University, Tokyo, Japan. ohshima@waseda.jp., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp., Miyake N; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan. nomiyake@ri.ncgm.go.jp.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. nomiyake@ri.ncgm.go.jp. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2024 Nov 05; Vol. 9 (1), pp. 55. Date of Electronic Publication: 2024 Nov 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2056-7944 |
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| DOI: | 10.1038/s41525-024-00437-5 |
