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The article discusses the case of a 4-month-old girl of Punjabi-Pakistani descent with a rare form of junctional epidermolysis bullosa (JEB) known as laryngo-onycho-cutaneous (LOC) syndrome. The patient presented with erosions, blisters, and nail dystrophy, with a homozygous variant in the LAMB3 gene identified through genetic testing. The study highlights the genetic heterogeneity of JEB and LOC subtypes, emphasizing the importance of precise molecular diagnostics for patient management. The identification of this novel variant contributes to the understanding of the variable genotype-phenotype spectrum of JEB and LOC, potentially guiding future treatment developments. [Extracted from the article]