Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa(English)
- autosomal recessive subtype of inherited mechanobullous skin disease, frequently having premature termination codon (PTC) mutations on both alleles, resulting in depleted mRNA and a1 helix, and failure to form the triple helix structure characteristic of type VII collagen. Also denoted as HS-RDEB
- DEB, EB, JEB, NEBR, PTC
- Dermatology, Genetics
- https://doi.org…0X.2012.03638.x