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

Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Sara Pajouhanfar, Taghi Baghdadi, Azam Ahmadi Shadmehri, Cecilia Giunta, Marius Kraenzlin, Delfien Syx, Fransiska Malfait, Cristina Has, Su M. Lwin, Razieh Karamzadeh, Lu Liu, Alyson Guy, Mohammad Hamid, Ariana Kariminejad, Sirous Zeinali, John A. McGrathJouni Uitto

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