A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report
ST3GAL5基因中一种新的移码致病变异导致椒盐样发育退化综合征（SPDRS）：病例报告
期刊:Human Genome Variation
影响因子:1
doi:10.1038/s41439-021-00164-8.
Jamal Manoochehri ,Seyed Alireza Dastgheib ,Hossein Jafari Khamirani ,Maryam Mollaie ,Zahra Sharifi ,Sina Zoghi ,Seyed Mohammad Bagher Tabei ,Sanaz Mohammadi ,Fatemeh Dehghanian ,Zahra Farbod ,Mehdi Dianatpour
