Fig. 4From: Lethal variants in humans: lessons learned from a large molecular autopsy cohortIdentification of MSN-related lethal phenotype. A Pedigree of 16DG0125 (two siblings died during childhood). B, C CT scan showing widespread ground glass change with no significant interstitial thickening. D, E Sequence chromatogram of MSN:NM_002444.3:c.1056delG, MTTP:NM_000253: c.2620A>G variants, and sketches of MSN and MTTP protein domains; arrows denote mutated residuesBack to article page