Het Birt-Hogg-Dubésyndroom

M. B.A. Van Doorn; A. C. Houweling; F. H. Menko; Th M. Starink

Het Birt-Hogg-Dubésyndroom

Translated title of the contribution: Birt-Hogg-Dube syndrome

M. B.A. Van Doorn
, A. C. Houweling
, F. H. Menko
, Th M. Starink

Amsterdam UMC - Vrije Universiteit Amsterdam

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early detection and treatment of renal cancer.

Translated title of the contribution	Birt-Hogg-Dube syndrome
Original language	Dutch
Pages (from-to)	495-498
Number of pages	4
Journal	Nederlands tijdschrift voor dermatologie en venereologie
Volume	20
Issue number	8
Publication status	Published - Sept 2010

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

BHD
Fibrofolliculoma
FLCN
Folliculin
Pneumothorax
Renal cell carcinoma

Cite this

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title = "Het Birt-Hogg-Dub{\'e}syndroom",

abstract = "Birt-Hogg-Dub{\'e} syndrome (BHD) is an autosomal dominant condition characterised clinically by fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early detection and treatment of renal cancer.",

keywords = "BHD, Fibrofolliculoma, FLCN, Folliculin, Pneumothorax, Renal cell carcinoma",

author = "\{Van Doorn\}, \{M. B.A.\} and Houweling, \{A. C.\} and Menko, \{F. H.\} and Starink, \{Th M.\}",

year = "2010",

month = sep,

language = "Dutch",

volume = "20",

pages = "495--498",

journal = "Nederlands tijdschrift voor dermatologie en venereologie",

issn = "0925-8604",

publisher = "DCHG Partners in Mediscne Communicatie",

number = "8",

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TY - JOUR

T1 - Het Birt-Hogg-Dubésyndroom

AU - Van Doorn, M. B.A.

AU - Houweling, A. C.

AU - Menko, F. H.

AU - Starink, Th M.

PY - 2010/9

Y1 - 2010/9

N2 - Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early detection and treatment of renal cancer.

AB - Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early detection and treatment of renal cancer.

KW - BHD

KW - Fibrofolliculoma

KW - FLCN

KW - Folliculin

KW - Pneumothorax

KW - Renal cell carcinoma

UR - https://www.scopus.com/pages/publications/78349279575

M3 - Article

AN - SCOPUS:78349279575

SN - 0925-8604

VL - 20

SP - 495

EP - 498

JO - Nederlands tijdschrift voor dermatologie en venereologie

JF - Nederlands tijdschrift voor dermatologie en venereologie

IS - 8

ER -

Het Birt-Hogg-Dubésyndroom

Abstract

UN SDGs

Keywords

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