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Article

Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.

Familial cancer - 1 Jan 2009

Hasani-Ranjbar Shirin, Amoli Mahsa M, Ebrahim-Habibi Azadeh, Haghpanah Vahid, Hejazi Maryam, Soltani Akbar, Larijani Bagher

Abstract excerpt

von Hippel-Lindau (vHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. More than 300 germline VHL mutations have been identified that are involved in VHL disease. A large family (four generations) was evaluated. In this paper we report...

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Source

Identifiers

PMID: 19649731
DOI: 10.1007/s10689-009-9266-4

Genes

VHL
RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19649731-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.PMID 19649731Read ↗

Molecular genetic analysis and mutation screening of the VHL gene in a Japanese family with von Hippel-Lindau disease.Semantic proximity Read ↗

Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.Semantic proximity Read ↗

Discovering a novel genetic variant in 11 family members who had isolated pheochromocytoma linked to von Hippel-Lindau (VHL) syndrome, aligning with the type 2c phenotype.Semantic proximity Read ↗

Novel gene mutation in von Hippel-Lindau disease - a report of two cases.Semantic proximity Read ↗

Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.Semantic proximity Read ↗

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

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P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.Semantic proximity Read ↗

Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.Semantic proximity Read ↗

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