Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
作者信息
Kolanczyk Mateusz, Krawitz Peter, Hecht Jochen, Hupalowska Anna, Miaczynska Marta, Marschner Katrin, Schlack Claire, Emmerich Denise, Kobus Karolina, Kornak Uwe, Robinson Peter N, Plecko Barbara, Grangl Gernot, Uhrig Sabine, Mundlos Stefan, Horn Denise
出版信息
Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278.
Abstract
摘要
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Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.CCDC22基因中的错义变异导致具有Ritscher-Schinzel/3C综合征特征的X连锁隐性智力障碍。
Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278.
2
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.CCDC22中的错义变异导致具有里切尔-申泽尔/3C综合征特征的X连锁隐性智力障碍。
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