CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Tomoko Uehara; Takatoshi Tsuchihashi; Mamiko Yamada; Hisato Suzuki; Toshiki Takenouchi; Kenjiro Kosaki

doi:10.1002/ajmg.a.61356

CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

Tomoko Uehara, Takatoshi Tsuchihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki

研究成果: Letter › 査読

本文言語	English
ページ（範囲）	2506-2509
ページ数	4
ジャーナル	American Journal of Medical Genetics, Part A
巻	179
号	12
DOI	https://doi.org/10.1002/ajmg.a.61356
出版ステータス	Published - 2019 12月 1

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1002/ajmg.a.61356

他のファイルとリンク

引用スタイル

@article{c0c22723bcc74b99903601d5cffdea2c,

title = "CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features",

author = "Tomoko Uehara and Takatoshi Tsuchihashi and Mamiko Yamada and Hisato Suzuki and Toshiki Takenouchi and Kenjiro Kosaki",

note = "Funding Information: This study makes use of data generated by the DECIPHER community. A full list of centers who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust. We thank Ms. Chika Kanoe, Ms. Yumi Obayashi, and Ms. Keiko Tsukue for their technical assistance in the preparation of this article. This work was supported by Initiative on Rare and Undiagnosed Diseases (grant number JP18ek0109301) from the Japan Agency for Medical Research and Development.",

year = "2019",

month = dec,

day = "1",

doi = "10.1002/ajmg.a.61356",

language = "English",

volume = "179",

pages = "2506--2509",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "12",

}

TY - JOUR

T1 - CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features

AU - Uehara, Tomoko

AU - Tsuchihashi, Takatoshi

AU - Yamada, Mamiko

AU - Suzuki, Hisato

AU - Takenouchi, Toshiki

AU - Kosaki, Kenjiro

N1 - Funding Information: This study makes use of data generated by the DECIPHER community. A full list of centers who contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust. We thank Ms. Chika Kanoe, Ms. Yumi Obayashi, and Ms. Keiko Tsukue for their technical assistance in the preparation of this article. This work was supported by Initiative on Rare and Undiagnosed Diseases (grant number JP18ek0109301) from the Japan Agency for Medical Research and Development.

PY - 2019/12/1

Y1 - 2019/12/1

UR - http://www.scopus.com/inward/record.url?scp=85073778351&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85073778351&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.61356

DO - 10.1002/ajmg.a.61356

M3 - Letter

C2 - 31512373

AN - SCOPUS:85073778351

SN - 1552-4825

VL - 179

SP - 2506

EP - 2509

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -