Biallelic loss-of-function variants in mitochondrial phospholipase PNPLA8 decrease in the number of basal radial glial cells and lead to microcephaly with simplified gyral pattern

Biallelic loss-of-function variants in mitochondrial phospholipase PNPLA8 decrease in the number of basal radial glial cells and lead to microcephaly with simplified gyral pattern
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线粒体磷脂酶 PNPLA8 中的双等位基因功能丧失变异导致基底放射状胶质细胞数量减少,并导致小头畸形和简化的脑回模式

DOI:
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发表时间:
2022
期刊:
影响因子:
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通讯作者:
Shinya Oki Yosh
Shinya Oki Yosh
中科院分区:
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文献类型:
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作者:
Yuji Nakamura;Issei S Shimada;Masanori Fujimoto;Emi Sato;Akihiko Miyauchi;Fuyuki Miya;Tatsuhiko Tsunoda;Yukimune Okubo;Kazuhiro Haginoya;Eriko Koshimizu;Satoko Miyatake;Naomichi Matsumoto;Yuko Arioka;Norio Ozaki;Mizuki Honda;Shinya Oki Yosh

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