Birt-Hogg-Dubé syndrom
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Birt-Hogg-Dubé syndrom. / Rehfeld, Anders Aagaard; van Steensel, Maurice A M; Friis-Hansen, Lennart.
I: Ugeskrift for Laeger, Bind 172, Nr. 29, 19.07.2010, s. 2085-90.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Birt-Hogg-Dubé syndrom
AU - Rehfeld, Anders Aagaard
AU - van Steensel, Maurice A M
AU - Friis-Hansen, Lennart
PY - 2010/7/19
Y1 - 2010/7/19
N2 - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.
AB - Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.
KW - Cysts
KW - Genetic Testing
KW - Hamartoma
KW - Humans
KW - Kidney Neoplasms
KW - Lung Neoplasms
KW - Mutation
KW - Pneumothorax
KW - Proto-Oncogene Proteins
KW - Skin Neoplasms
KW - Syndrome
KW - Tumor Suppressor Proteins
M3 - Tidsskriftartikel
C2 - 20633341
VL - 172
SP - 2085
EP - 2090
JO - Ugeskrift for Laeger
JF - Ugeskrift for Laeger
SN - 0041-5782
IS - 29
ER -
ID: 122433284