2021.08.27
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality
(Hum Mol Genet. 2021 Aug 4;ddab224. doi: 10.1093/hmg/ddab224. Online ahead of print.）
Sakamoto M1,2, Sasaki K3, Sugie A4, Nitta Y4, Kimura T5, Gürsoy S6, Cinleti T7, Iai M8, Sengoku T9, Ogata K9, Suzuki A10, Okamoto N11, Iwama K1,2, Tsuchida N1,2, Uchiyama Y1,12, Koshimizu E1, Fujita A1, Hamanaka K1, Miyatake S1,13, Mizuguchi T1, Taguri M14, Ito S2, Takahashi H3, Miyake N1,15, Matsumoto N1.
1Department of Human Genetics, Yokohama City University Graduate School of Medicine.
2Department of Pediatrics, Yokohama City University Graduate School of Medicine.
3Department of Molecular Biology, Yokohama City University Graduate School of Medicine.
4Brain Research Institute, Niigata University.
5Division of Human Genetics, Department of Integrated Genetics, National Institute of Genetics.
6Department of Pediatric Genetics, S.B.Ü. Dr. Behçet Uz Children's Education and Research Hospital, Turkey.
7Department of Pediatric Genetics, Dokuz Eylul University, Faculty of Medicine, Turkey.
8Department of Neurology, Kanagawa Children's Medical Center.
9Department of Biochemistry, Yokohama City University Graduate School of Medicine.
10Molecular Cellular Biology Laboratory, Yokohama City University Graduate School of Medical Life Science.
11Department of Medical Genetics, Osaka Women's and Children's Hospital.
12Department of Rare Disease Genomics, Yokohama City University Hospital.
13Clinical Genetics Department, Yokohama City University Hospital.
14Department of Data Science, Yokohama City University School of Data Science.
15Department of Human Genetics, Research Institute, National Center for Global Health and Medicine.
