Associated Papers
Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.
Nielsen SM et al.
Familial Cancer, 2011
Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
Nielsen SM et al.
American Journal of Medical Genetics. Part A, 2011
Genotype-phenotype correlations in von Hippel-Lindau disease.
Ong KR et al.
Human Mutation, 2007
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
Weirich G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
Bradley JF et al.
American Journal of Medical Genetics, 1999
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.
Chen F et al.
Journal of Medical Genetics, 1996
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