A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

Naoya Morisada, Tomoaki Ioroi, Mariko Ikeda, Ming Juan Ye, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kazumoto Iijima

研究成果: Article

5 引用 (Scopus)

抄録

N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ∼2 Mb interstitial deletion in 12p13 involving the entire GRIN2B gene, who presented with intellectual disability, motor developmental delay and marked macrocephaly.

元の言語English
記事番号16029
ジャーナルHuman Genome Variation
3
DOI
出版物ステータスPublished - 15-09-2016

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Megalencephaly
N-Methyl-D-Aspartate Receptors
Aberrations
Intellectual Disability
Genes
Proteins
Chromosome 12p partial deletion
Neurodevelopmental Disorders

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Genetics
  • Molecular Biology

これを引用

Morisada, N., Ioroi, T., Ikeda, M., Ye, M. J., Okamoto, N., Yamamoto, T., & Iijima, K. (2016). A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. Human Genome Variation, 3, [16029]. https://doi.org/10.1038/hgv.2016.29
Morisada, Naoya ; Ioroi, Tomoaki ; Ikeda, Mariko ; Ye, Ming Juan ; Okamoto, Nobuhiko ; Yamamoto, Toshiyuki ; Iijima, Kazumoto. / A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. :: Human Genome Variation. 2016 ; 巻 3.
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A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly. / Morisada, Naoya; Ioroi, Tomoaki; Ikeda, Mariko; Ye, Ming Juan; Okamoto, Nobuhiko; Yamamoto, Toshiyuki; Iijima, Kazumoto.

:: Human Genome Variation, 巻 3, 16029, 15.09.2016.

研究成果: Article

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