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査読

7 被引用数 (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.

本文言語English
論文番号16029
ジャーナルHuman Genome Variation
3
DOI
出版ステータスPublished - 15-09-2016

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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