Associated Papers
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K et al.
Journal of Medical Genetics, 2023
Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.
Bodard S et al.
Cancers, 2022
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_1
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Lim DH et al.
Human Mutation, 2010
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
American Journal of Human Genetics, 2005
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