Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
PI4KA基因的种系隐性突变与侧裂周围多小脑回畸形、小脑发育不全和关节挛缩症相关。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddv117
Pagnamenta, Alistair T; Howard, Malcolm F; Wisniewski, Eva; Popitsch, Niko; Knight, Samantha J L; Keays, David A; Quaghebeur, Gerardine; Cox, Helen; Cox, Phillip; Balla, Tamas; Taylor, Jenny C; Kini, Usha
