Article

Novel VHL Germline Mutations in Iranian RCH Patients

2023-05-09

Abstract excerpt

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant inherited multisystem neoplasia disorder caused by the VHL tumor suppressor gene, coding for VHL protein (pVHL), variants. Various types of VHL variants present different clinical phenotypes that later lead to events resulting in benign or malignant lesions including Retinal Capillary Hemangioblastoma (RCH). In this case series study, 3 families (5 RCH pati...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 349ddda2-55aa-5a88-a330-427e3c27f0e5
DOI: 10.21203/rs.3.rs-2900654/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel VHL Germline Mutations in Iranian RCH PatientsDOI 10.21203/rs.3.rs-2900654/v1Read

In Silico Analysis of Novel <i>VHL</i> Germline Mutations in Iranian RCH PatientsSemantic proximity Read

The spectrum of germline VHL variants in Iranian patients with Retinal Capillary Hemangioblastoma and genotype-phenotype analysisSemantic proximity Read

Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.Semantic proximity Read

A Nonsense Mutation in VHL Gene Causing Von Hippel-lindau Syndrome in a Large Chinese FamilySemantic proximity Read

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.Semantic proximity Read

Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.Semantic proximity Read

Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report.Semantic proximity Read

Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.Semantic proximity Read

Von hippel-lindau disease: a genetic and clinical review.Semantic proximity Read

Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.Semantic proximity Read

Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.Semantic proximity Read

Von Hippel–Lindau Disease: Molecular Pathological Basis, Clinical Criteria, Genetic Testing, Clinical Features of Tumors and TreatmentSemantic proximity Read