A case of neurofibromatosis type I due to a splicing mutation in the NF1 gene

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摘要: 患儿女,1岁2个月,出生后全身陆续出现多发棕褐色斑片。患儿足月顺产,既往体健,无行走困难及发育迟缓,无抽搐及癫痫史,母乳喂养,父母非近亲结婚,其母无异常孕产史,家族成员中无类似病史……