TY - JOUR
T1 - A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly
AU - Morisada, Naoya
AU - Ioroi, Tomoaki
AU - Taniguchi-Ikeda, Mariko
AU - Ye, Ming Juan
AU - Okamoto, Nobuhiko
AU - Yamamoto, Toshiyuki
AU - Iijima, Kazumoto
N1 - Publisher Copyright:
© The Author(s) 2016.
PY - 2016/9/15
Y1 - 2016/9/15
N2 - 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.
AB - 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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U2 - 10.1038/hgv.2016.29
DO - 10.1038/hgv.2016.29
M3 - Article
AN - SCOPUS:85045241732
SN - 2054-345X
VL - 3
JO - Human Genome Variation
JF - Human Genome Variation
M1 - 16029
ER -