Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1

Authors: Vineta Fellman, Rishi Banerjee, Kai-Lan Lin, Ilari Pulli, Helen Cooper, Henna Tyynismaa, Jukka Kallijärvi

Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year: 2022

DOI: https://doi.org/10.1016/j.bbadis.2021.166298