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Article

Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.

Familial cancer - 1 Jan 2017

Whitworth James, Stausbøl-Grøn Brian, Skytte Anne-Bine

Abstract excerpt

When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and...

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Source

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Identifiers

PMID: 27722904
DOI: 10.1007/s10689-016-9928-y
PMCID: PMC5243871

Genes

CCM2
FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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