ArticleJournal of Indian Association of Pediatric Surgeons
Rare Case of Esophageal Squamous Cell Carcinoma in an Adolescent with Multiple Congenital Anomalies and Homozygous USH2A Mutation.
Article in Journal of Indian Association of Pediatric Surgeons. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
A 16-year-old boy from consanguineous parents, carrying a homozygous USH2A mutation and multiple congenital anomalies, presented with distal esophageal squamous cell carcinoma - likely the first such case documented. This report underscores the value of genetic testing and multidisciplinary management, demonstrating feasible surgery-only treatment in a frail adolescent with an expanded USH2A phenotype.
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