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Article

Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.

American journal of medical genetics. Part A - 1 Dec 2016

Dow Eryn, Winship Ingrid

Abstract excerpt

Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a...

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Source

Identifiers

PMID: 27643397
DOI: 10.1002/ajmg.a.37952

Genes

FLCN

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Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.PMID 27643397Read ↗

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