Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report

    September 2022 in “ Frontiers in genetics ”
    Wei Wang, Qiang Guo, Jinshan Chen … Jingqi Wang
    Studysummary This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
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