A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

by 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
Published 2021-08-01