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

@inproceedings{Morisada2016A1G,
  title={A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly},
  author={Naoya Morisada and Tomoaki Ioroi and M Taniguchi-Ikeda and Ming Juan Ye and Nobuhiko Okamoto and Toshiyuki Yamamoto and Kazumoto Iijima},
  booktitle={Human Genome Variation},
  year={2016}
}
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. 

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