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

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

研究成果: Article

7 引用 (Scopus)

抜粋

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
外部発表Yes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Genetics
  • Molecular Biology

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