Fig. 3From: Lethal variants in humans: lessons learned from a large molecular autopsy cohortIdentification of FAAH2-related lethal phenotype. A Pedigree of 18DG0989 (died during the neonatal period). B Images of the patient with facial dysmorphism, significant hypotonia, and mechanical ventilator dependence. C Sanger sequence of FAAH2:NM_174912:c.1175G>A:p.(Trp392*) and sketch of FAAH2 protein domainsBack to article page