ments. NGS of genome re- n gions that contain pseudogenes, paralogs (genes related by genomic duplication), or repetitive motifs can be problematic CMH064 had c c fulminant EB. Most EB-associated genes encode large cytoskektal pro- teins with regions of constrained amino acid usage, which equate with c

riants were recovered with each method. Prospective analyses Mutations in 35 genes can cause generalized, erosive dermatitis of the type found in CMH064 (table S5). The severe phenotype, negative family history, and absence of consanguinity suggested dominant de novo or recessive inheritance. No kno