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highlighting broader clinical variability of this type of DEB too. Furthermore, our data indicate that single glycine deletions in COL7A1's THD may have the same molecular effect as glycine substitutions. Whether all single glycine deletions would exert a dominant negative effect or some would be recessive, as is the case with glycine substitutions, 2 needs to been seen. Finally, this study emphasizes the importance of careful examination of relatives and co-segregation analysis in case of unknown or unexpected clinical and molecular findings.

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