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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.I., Murrell, D.F., Hovnanian, A.Volume:
174
Language:
english
Journal:
British Journal of Dermatology
DOI:
10.1111/bjd.14312
Date:
May, 2016
File:
PDF, 308 KB
english, 2016