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机译:一对两个基地在智商重复删除ASPM在巴基斯坦的一个家庭是头小畸型
Quaid I Azam Univ;
Istanbul Tech Univ;
Taibah Univ Medina;
small head; Mutation; Short staturedevelopmental delayIntellectual DisabilityApraxia of PhonationGenesevolutionLociMicrocephaly;
机译:A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly
机译:Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
机译:Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV