Title : Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1 - Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298 |
Author(s) : Fellman V , Banerjee R , Lin KL , Pulli I , Cooper H , Tyynismaa H , Kallijarvi J |
Ref : Biochimica & Biophysica Acta Mol Basis Dis , 1868 :166298 , 2022 |
Abstract : |
PubMedSearch : Fellman_2022_Biochim.Biophys.Acta.Mol.Basis.Dis_1868_166298 |
PubMedID: 34751152 |
Gene_locus related to this paper: human-SERAC1 |