Associated Papers
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J et al.
American Journal of Human Genetics, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Marlin S et al.
Human Mutation, 1999
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