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Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Ichimoto, Keiko; Naruke, Yuki; Akiyama, Nana; Lim, Sze Chern; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Fushimi, Takuya; Okazaki, Atsuko; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei.
Affiliation
  • Ebihara T; Center for Medical Genetics, Department of Neonatology, Chiba Children's Hospital, Chiba City, Japan.
  • Nagatomo T; Department of Neonatology, Japanese Red Cross Fukuoka Hospital, Fukuoka City, Japan.
  • Sugiyama Y; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Tsuruoka T; Center for Medical Genetics, Department of Neonatology, Chiba Children's Hospital, Chiba City, Japan.
  • Osone Y; Center for Neonatology, Chiba University Hospital, Chiba City, Japan.
  • Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Tajika M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Ichimoto K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Naruke Y; Department of Pathology, Chiba Children's Hospital, Chiba City, Japan.
  • Akiyama N; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Lim SC; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
  • Yatsuka Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
  • Nitta KR; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
  • Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
  • Fushimi T; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan.
  • Okazaki A; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba City, Japan.
  • Ohtake A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.
  • Okazaki Y; Department of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan.
  • Murayama K; Center for Intractable Diseases, Saitama Medical University Hospital, Moroyama, Saitama, Japan.
Mol Genet Metab Rep ; 33: 100912, 2022 Dec.
Article in En | MEDLINE | ID: mdl-36061954
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Type: Article Affiliation country: Japan
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Metab Rep Year: 2022 Type: Article Affiliation country: Japan