原发性小头畸形的临床特征及相关基因的研究进展(4)
[9]Desir J,Cassart M,David P,et al.Primary microcephaly with ASPM mutation shows simplified cortical gyration with anteroposterior gradient pre- and post-natally[J]. Am J Med Genet A,2008,146A:1439-1443.[10]Trimborn M,Richter R,Sternberg N,et al.The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype[J].Hum Mutat ......
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