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Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.

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Title: Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.
Authors: Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. Electronic address: higuchi0302@m2.kufm.kagoshima-u.ac.jp., Yoshizaki K; Department of Disease Model, Aichi Developmental Disability Center, Kasugai, Japan; Department of Anatomy and Systems Biology, Faculty of Medicine, University of Yamanashi, Chuo, Japan., Nakanishi K; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan., Yuan J; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Hobara T; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Kojima F; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Hiramatsu Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Yoshimura A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Nozuma S; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Sakiyama Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Hashiguchi A; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan; Department of Neurology, National Hospital Organization Okinawa Hospital, Okinawa, Japan., Okamoto Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan., Matsuura E; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Yamasaki R; Department of Neurology, Kyushu University Hospital, Fukuoka, Japan; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Hashida H; Department of Neurology, Japanese Red Cross Medical Center, Tokyo, Japan., Hisano T; Division of Neonatology, St Mary's Hospital, Kurume, Japan., Okada J; Division of Neonatology, St Mary's Hospital, Kurume, Japan., Hara T; Faculty of Human Sciences, Waseda University, Tokyo, Japan., Sakakima H; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan., Suda K; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan., Yoshida H; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan., Yamaguchi M; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan., Mitsui J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan., Tsuji S; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan., Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Apr 03; Vol. 28 (6), pp. 102570. Date of Electronic Publication: 2026 Apr 03.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: Biallelic variants in FAT3 cause axonal neuropathy with multisystem neurodevelopmental features.
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  Data: <searchLink fieldCode="AU" term="%22Higuchi+Y%22">Higuchi Y</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan. Electronic address: higuchi0302@m2.kufm.kagoshima-u.ac.jp.<br /><searchLink fieldCode="AU" term="%22Yoshizaki+K%22">Yoshizaki K</searchLink>; Department of Disease Model, Aichi Developmental Disability Center, Kasugai, Japan; Department of Anatomy and Systems Biology, Faculty of Medicine, University of Yamanashi, Chuo, Japan.<br /><searchLink fieldCode="AU" term="%22Nakanishi+K%22">Nakanishi K</searchLink>; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Yuan+J%22">Yuan J</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Hobara+T%22">Hobara T</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Kojima+F%22">Kojima F</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Hiramatsu+Y%22">Hiramatsu Y</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Ando+M%22">Ando M</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshimura+A%22">Yoshimura A</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Nozuma+S%22">Nozuma S</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Sakiyama+Y%22">Sakiyama Y</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Hashiguchi+A%22">Hashiguchi A</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan; Department of Neurology, National Hospital Organization Okinawa Hospital, Okinawa, Japan.<br /><searchLink fieldCode="AU" term="%22Okamoto+Y%22">Okamoto Y</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Matsuura+E%22">Matsuura E</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Yamasaki+R%22">Yamasaki R</searchLink>; Department of Neurology, Kyushu University Hospital, Fukuoka, Japan; Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.<br /><searchLink fieldCode="AU" term="%22Hashida+H%22">Hashida H</searchLink>; Department of Neurology, Japanese Red Cross Medical Center, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hisano+T%22">Hisano T</searchLink>; Division of Neonatology, St Mary's Hospital, Kurume, Japan.<br /><searchLink fieldCode="AU" term="%22Okada+J%22">Okada J</searchLink>; Division of Neonatology, St Mary's Hospital, Kurume, Japan.<br /><searchLink fieldCode="AU" term="%22Hara+T%22">Hara T</searchLink>; Faculty of Human Sciences, Waseda University, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Sakakima+H%22">Sakakima H</searchLink>; Department of Physical Therapy, School of Health Science, Faculty of Medicine, Kagoshima University, Kagoshima, Japan.<br /><searchLink fieldCode="AU" term="%22Suda+K%22">Suda K</searchLink>; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Yoshida+H%22">Yoshida H</searchLink>; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Yamaguchi+M%22">Yamaguchi M</searchLink>; Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Mitsui+J%22">Mitsui J</searchLink>; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Tsuji+S%22">Tsuji S</searchLink>; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Takashima+H%22">Takashima H</searchLink>; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Apr 03; Vol. 28 (6), pp. 102570. <i>Date of Electronic Publication: </i>2026 Apr 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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