Abstract
Prader-Willi综合征是由于父源染色体15q11.2-q13.1区域缺失或印记基因的功能缺陷所致的印记遗传病,为一种较常见的罕见病。早期以肌张力减低和喂养困难,幼儿期后以肥胖、性发育不良和智力发育迟缓为主要临床特征。.
Published Version
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More From: Zhonghua er ke za zhi = Chinese journal of pediatrics
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