Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.
Turczynski S,Titeux M,Pironon N,Cohn H,Murrell D,Hovnanian A
Source :
2016 Feb 3
Pmid / DOI:
26595603