Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
作者信息
Offiah A C, Mansour S, Jeffrey I, Nash R, Whittock N, Pyper R, Bewley S, Clayton P T, Hall C M
出版信息
J Med Genet. 2003 Dec;40(12):e129. doi: 10.1136/jmg.40.12.e129.
Abstract
摘要
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Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.格林伯格发育异常（HEM）和致死性X连锁显性康拉迪-于纳曼点状软骨发育不良（CDPX2）：两例具有重叠表型的病例报告
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