Publication | Open Access

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

Mendelian DisorderGenetic DisorderLysyl Hydroxylase 3PathologyDermatologyMedicineExtracellular MatrixConnective Tissue Disease