Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities
GON4L基因的双等位基因功能缺失变异会导致小头畸形和脑结构异常。
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-024-00437-5
Simo Li #,Sanami Takada #,Ghada M H Abdel-Salam,Mohamed S Abdel-Hamid,Maha S Zaki,Mahmoud Y Issa,Aida M S Salem,Eriko Koshimizu,Atsushi Fujita,Ryoko Fukai,Toshio Ohshima,Naomichi Matsumoto,Noriko Miyake
