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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16715


    Title: A 24.2-Mb deletion of 4q12->q21.21 characterized by array CGH in a 13�-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: "AMBN – AMTN – AREG – BMP2K – BTC–- ENAM – EREG – Eye – Monosomy 4q (4q12→q21.2) – Proximal 4q deletion – Teeth."
    Date: 2011-09
    Issue Date: 2012-11-23 17:16:12 (UTC+8)
    Abstract: "A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in
    a 13½-year-old girl with short stature, mental retardation, developmental delay,
    hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty: We
    report molecular and cytogenetic characterization of proximal deletion of chromosome
    4q, del(4)(q12→q21.21) in a 13½-year-old girl with short stature, mental retardation,
    developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and
    delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN
    genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K
    genes is most likely responsible for ocular disorders, and haploinsufficiency of the
    EREG, AREG and BTC genes is most likely responsible for delayed puberty in this
    patient."
    Relation: GENETIC COUNSELING
    Appears in Collections:[生物科技學系] 期刊論文

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