Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
由双等位基因TIMM29变异和果蝇同源基因RNAi沉默引起的Sengers综合征重现了人类的表型
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00723-y
Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna