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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/16823

    Title: Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome
    Authors: 陳持平;Chen, Chih-Ping
    Contributors: 生物科技學系
    Keywords: "Hutchinson-Gilford progeria syndrome;LMNA;Oral and craniofacial phenotypes;Radiology."
    Date: 2012-03
    Issue Date: 2012-11-23 17:17:24 (UTC+8)
    Abstract: "Clinical imaging findings in a girl with Hutchinson-Gilford progeria
    syndrome: We report an 8½-year-old girl with premature aging, a karyotype of 46,XX
    and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The
    clinical features of accelerated aging and the molecular finding were consistent with
    the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation,
    we demonstrate the radiological imaging findings of skeletal, oral and craniofacial
    phenotypes of abnormalities associated with HGPS. The oral and craniofacial
    abnormalities caused dental caries, severe malocclusion, and swallowing, feeding and
    speech problems. Dural calcification, and granulation in the ear drum and external ear
    canal were additionally observed."
    Appears in Collections:[生物科技學系] 期刊論文

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