Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease

ABSTRACT Objective: In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. Subjects and methods: We retrospectively studied 53 consecutive patients with VHL disease and confirmed genetic diagnoses from 32 relatives. Results:...

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Main Authors:	Gustavo H. Mori, Gustavo F. C. Fagundes, Lucas S. Santana, Felipe Freitas-Castro, Ana Caroline F. Afonso, Delmar M. Lourenço Jr., Maria Adelaide A. Pereira, Fabio Y. Tanno, Victor Srougi, Jose L. Chambo, Mauricio D. Cordeiro, William C. Nahas, Ana O. Hoff, Maria Candida B. V. Fragoso, Berenice B. Mendonca, Ana Claudia Latronico, Madson Q. Almeida
Format:	Article
Language:	English
Published:	Brazilian Society of Endocrinology and Metabolism 2025-02-01
Series:	Archives of Endocrinology and Metabolism
Subjects:	Von Hippel-Lindau disease renal cell carcinoma adrenal paraganglioma genetics
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972025000101500&lng=en&tlng=en
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Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease

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