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Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.

Journal of endocrinological investigation - 1 Jul 2025

Sharma Anima, Ambulkar Ketki, Karlekar Manjiri, Memon Saba Samad, Patil Virendra, Agarwal Nitish, Sarathi Vijaya, Lila Anurag, Rege Sameer, Malhotra Gaurav, Thakkar Hemangini, Barnabas Rohit, Shah Nalini, Bandgar Tushar

Abstract excerpt

PURPOSE: Data on pediatric/adolescent von Hippel-Lindau (VHL) disease is sparse, and surveillance/management recommendations rely on expert opinions/extrapolations from adults. We aimed to characterize the childhood/adolescent VHL disease phenotype, compare it with adults, and identify genotype-phenotype correlations. METHODS: Retrospective review of children/adolescents (≤ 19 years) and adults with VHL disease...

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Identifiers

PMID: 40293648
DOI: 10.1007/s40618-025-02571-y

Genes

VHL

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