Abstract
1例Costello综合征患儿 女，3月龄，因体重下降就诊。经查体及相关基因检测发现患儿HRAS基因杂合变异：c.34G>A（p.G12S），此变异为已报道致病变异，但患儿父母及哥哥外周血样本中未见该变异，确诊为Costello综合征。.
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