Biallelic variants in SREK1 downregulating SNORD115 and SNORD116 cause a Prader-Willi-like syndrome
SREK1基因的双等位基因变异导致SNORD115和SNORD116表达下调,从而引起类似普拉德-威利综合征的症状。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI191008
Saeed, Sadia; Siegert, Anna-Maria; Tung, Y C Loraine; Khanam, Roohia; Janjua, Qasim M; Manzoor, Jaida; Derhourhi, Mehdi; Toussaint, Bénédicte; Lam, Brian Yh; Mahmoud, Sherine Awad; Vaillant, Emmanuel; Buse Falay, Emmanuel; Amanzougarene, Souhila; Ayesha, Hina; Khan, Waqas I; Ramazan, Nosheen; Saudek, Vladimir; O'Rahilly, Stephen; Goldstone, Anthony P; Arslan, Muhammad; Bonnefond, Amélie; Froguel, Philippe; Yeo, Giles Sh