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原发性小头畸形的临床特征及相关基因的研究进展 被引量:1

The clinical features and genotype of autosomal recessive primary microcephaly
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摘要 原发性小头畸形(Congenital Microcephaly)又称为真性小头畸形或常染色体隐形遗传小头畸形(Autosomal Recessive Primary Microcephaly,MCPH),是一种神经系统发育障碍疾病,其主要临床特征是头围减小伴随一定程度非进行性智力退化。小头畸形的病因包括环境因素、遗传因素和感染因素等。
出处 《中国美容医学》 CAS 2012年第11期2066-2070,共5页 Chinese Journal of Aesthetic Medicine
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