Associated Papers
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Leduc F et al.
European Journal of Human Genetics : Ejhg, 2025
40348827 (PubMed )
Supplement: 41431_2025_1855_MOESM2_ESM.xlsx › Table_3
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
Faguer S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
Reardon W et al.
American Journal of Medical Genetics. Part A, 2007
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Botzenhart EM et al.
Human Mutation, 2005
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
Albrecht B et al.
American Journal of Medical Genetics. Part A, 2004
SALL1 mutations in Townes-Brocks syndrome and related disorders.
Kohlhase J
Human Mutation, 2000
Strategies for screening for hereditary non-polyposis colorectal cancer.
Loukola A et al.
Journal of Medical Genetics, 1999
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