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    Title: Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2->q24.3 in a girl with autistic features and developmental delay
    Authors: 陳持平;Chen, Chih-Ping;Lin, Shuan-Pei;Chern, Schu-Rern;Chen, Yann-Jang;Tsai, Fuu-Jen;Wu, Pei-Chen;Wang, Wayseen
    Contributors: 生物科技學系
    Keywords: Array-CGH;2q24.2;2q24.3;Deletion;Autism;SCN2A;SCN3A
    Date: 2010-07
    Issue Date: 2012-11-23 17:13:21 (UTC+8)
    Abstract: We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2→q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.
    Relation: European Journal of Medical Genetics
    Appears in Collections:[Department of Biotechnology] Journal Article

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