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Multiple fibrofolliculomas

Known as: Birt-Hogg-Dube Syndrome, HORNSTEIN-KNICKENBERG SYNDROME, Fibrofolliculomas with Trichodiscomas and Acrochordons 
A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein… 
National Institutes of Health

Related topics

Related topics

21 relations
AngiolipomaAutosomal dominant inheritanceChromophobe Renal Cell CarcinomaColonic Polyps

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys.
BACKGROUND Patients with Birt-Hogg-Dubé (BHD) syndrome harbor germline mutations in the BHD tumor suppressor gene that are… 
Highly Cited
2008
Highly Cited
2008
Identification and characterization of a novel folliculin-interacting protein FNIP2.
Highly Cited
2007
Highly Cited
2007
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
RATIONALE Birt-Hogg-Dubé syndrome (BHDS) is an autosomal, dominantly inherited genodermatosis that predisposes to… 
Highly Cited
2004
Highly Cited
2004
Universal Grammar, statistics or both?
Review
2003
Review
2003
The genetic basis of cancer of the kidney.
PURPOSE The types of epithelial renal tumors are clear cell, types I and II papillary, chromophobe and oncocytoma. We identified… 
Highly Cited
2002
Highly Cited
2002
Clinical and genetic studies of Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant cancer syndrome characterised by benign skin tumours, renal tumours, and… 
Review
2002
Review
2002
Renal Tumors in the Birt-Hogg-Dubé Syndrome
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant genodermatosis characterized by the development of small dome-shaped… 
Highly Cited
1995
Highly Cited
1995
The Copy Theory of movement and linearization of chains in the Minimalist Program
L'A. propose un resume de sa these qui developpe une version strictement minimaliste de la theorie du copiage du mouvement en… 
Highly Cited
1990
Highly Cited
1990
The A/A-bar distinction and movement theory
Highly Cited
1977
Highly Cited
1977
Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.
In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two… 
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