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Clinical features and genetic diagnosis of four cases with progeria syndrome
2019
: 4例患儿均因皮肤异常入院，临床表现为早衰面容、身材矮小、皮下脂肪萎缩、秃发、智力正常，临床诊断为儿童早老症。基因检测4例患儿中存在2种基因变异，分别为LMNA基因c.1579C>T(p.R527C）纯合变异和c.1824 C>T(p.G608G）显性变异，确诊为2种不同变异类型儿童早老症。.
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