Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia
PNPLA8 中的双等位基因无效变异通过减少基底放射状胶质细胞的数量导致小头畸形
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awae185
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mo