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先天性肾上腺皮质增生症纯合突变1例 被引量:1

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摘要 本文报告1例CYP21A2基因的一个纯合突变:c.1451_1452delGGinsC纯合突变。未见任何文献报道。该患儿入院后出现难纠正的高钾、低钠、低氯的电解质紊乱,给予口服氢化可的松片、氟氢可的松片、食盐后好转。现报道如下。
作者 卢振盛
出处 《中国民康医学》 2013年第17期128-128,共1页 Medical Journal of Chinese People’s Health
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  • 1王晓梅.先天性肾上腺皮质增生症(同胞3例及典型病例报告)[J].苏州医学杂志,2000,23(1):45-45. 被引量:1
  • 2史宝海,李力兵,张兆杰.先天性肾上腺皮质增生症一家系4例报告[J].新生儿科杂志,1996,11(6):278-278. 被引量:1
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