High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

Abstract

Townes–Brocks syndrome (TBS, OMIM #104780) is a rare autosomal dominant malformation syndrome characterised by anal, renal, limb, and ear anomalies.1 TBS is caused by mutations in SALL1 , a human...