New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops
破坏 snoRNP 组装的新 ZNHIT3 变体导致产前 PEHO 综合征和孤立性积水
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doi:10.1101/2024.08.26.24312490
Md Lutfur Rahman, Adeline A Bonnard, Feng Wang, Lyse Ruaud, Fabien Guimiot, Yangping Li, Ines Defer, Yilin Wang, Virginie Marchand, Yuri Motorin, Bing Yao, Séverine Drunat, Homa Ghalei
