MATHEW, Allan; S MENON, Aakash; CHALIPAT, Shiji; LAKSHMI, V. Poornima; MANE, Shailaja. A Rare Case of Boucher-Neuhäuser Syndrome in a Child with PNPLA6 Mutation: Expanding the Pediatric Phenotype. Journal of Neonatal Surgery, Lahore, Pakistan, v. 14, n. 6S, p. 590–594, 2025. DOI: 10.52783/jns.v14.2294. Disponível em: https://jneonatalsurg.com/index.php/jns/article/view/2294. Acesso em: 4 mar. 2026.