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A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.
Mizukami, Miyako; Ishikawa, Aki; Miyazaki, Sachiko; Tsuzuki, Akiko; Saito, Sakae; Niihori, Tetsuya; Sakurai, Akihiro.
Affiliation
  • Mizukami M; Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan. Electronic address: mizukami@sapmed.ac.jp.
  • Ishikawa A; Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Miyazaki S; Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Tsuzuki A; Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan.
  • Saito S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; Graduate School of Medicine, Tohoku, University, Sendai, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Sakurai A; Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
Brain Dev ; 43(4): 563-565, 2021 Apr.
Article in En | MEDLINE | ID: mdl-33358638
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / DNA Helicases / Craniofacial Abnormalities / Mutation, Missense / Mi-2 Nucleosome Remodeling and Deacetylase Complex / Joint Instability / Intellectual Disability Limits: Child / Female / Humans Language: En Journal: Brain Dev Year: 2021 Document type: Article Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / DNA Helicases / Craniofacial Abnormalities / Mutation, Missense / Mi-2 Nucleosome Remodeling and Deacetylase Complex / Joint Instability / Intellectual Disability Limits: Child / Female / Humans Language: En Journal: Brain Dev Year: 2021 Document type: Article Country of publication: Netherlands