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

doi:10.1038/hgv.2016.29

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: ジャーナルへの寄稿 › 学術論文 › 査読

12 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	英語
論文番号	16029
ジャーナル	Human Genome Variation
巻	3
DOI	https://doi.org/10.1038/hgv.2016.29
出版ステータス	出版済み - 15-09-2016
外部発表	はい

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/hgv.2016.29

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title = "A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly",

abstract = "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.",

author = "Naoya Morisada and Tomoaki Ioroi and Mariko Taniguchi-Ikeda and Ye, \{Ming Juan\} and Nobuhiko Okamoto and Toshiyuki Yamamoto and Kazumoto Iijima",

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year = "2016",

month = sep,

day = "15",

doi = "10.1038/hgv.2016.29",

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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

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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UR - https://www.scopus.com/pages/publications/85045241732#tab=citedBy

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SN - 2054-345X

VL - 3

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 16029

ER -

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

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All Science Journal Classification (ASJC) codes

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