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    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/64380


    Title: An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy
    Authors: 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
    Contributors: 生物科技學系
    Date: 201310
    Issue Date: 2013-11-01 10:00:10 (UTC+8)
    Abstract: We present a 19-year-old male with laxity of skin and joints, sparse scalp hair, facial dysmorphism, epilepsy, multiple exostoses, scoliosis, gastroesophageal reflux, cardiovascular defects, and an 8q23.3-q24.22 deletion detected by array comparative genomic hybridization. The patient was previously misdiagnosed as having Ehlers-Danlos syndrome. However, his clinical findings are in fact correlated with trichorhinophalangeal syndrome type II/Langer-Giedion syndrome and Cornelia de Lange syndrome-4. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TRPS1, RAD21, EXT1 and KCNQ3 in this case.
    Relation: GENE, 529(1):176-80.
    Appears in Collections:[生物科技學系] 期刊論文

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