[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].
2019
: 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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