TY - JOUR
T1 - Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome
AU - Kluijt, I
AU - Jong, D.
AU - Teertstra, H.J.
AU - Axwijk, P.H.
AU - Gille, J.J.P.
AU - Bell, K.
AU - van Rens, A.
AU - van der Velden, A.W.G.
AU - Middelton, L.
AU - Horenblas, S.
PY - 2009
Y1 - 2009
N2 - Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJP, Bell K, van Rens A, van der Velden AWG, Middelton L, Horenblas S. Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome.Clin Genet 2009: 75: 537-543. (C) John Wiley & Sons A/S, 2009 Birt-Hogg-DubE syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation
AB - Kluijt I, de Jong D, Teertstra HJ, Axwijk PH, Gille JJP, Bell K, van Rens A, van der Velden AWG, Middelton L, Horenblas S. Early onset of renal cancer in a family with Birt-Hogg-DubE syndrome.Clin Genet 2009: 75: 537-543. (C) John Wiley & Sons A/S, 2009 Birt-Hogg-DubE syndrome is a hereditary syndrome characterized by benign disease of skin and lungs and a risk of malignant renal tumors. We describe a clinical and genetic study of a large Dutch family with a novel mutation in the FLCN gene. Renal cancer at very young age occurred in one branch of this family, while in other branches, cutaneous and pulmonary symptoms predominated. A variety of congenital anomalies and connective tissue abnormalities were observed, possibly associated with the gene mutation
U2 - 10.1111/j.1399-0004.2009.01159.x
DO - 10.1111/j.1399-0004.2009.01159.x
M3 - Article
C2 - 19320655
VL - 75
SP - 537
EP - 543
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -