Associated Papers
Functional analysis of heterozygous variants in the SALL1 gene in 2 children with Townes-Brocks syndrome with FSGS.
Liang R et al.
Bmc Pediatrics, 2025
A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Chi Y et al.
Italian Journal of Pediatrics, 2024
Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13).
Taniguchi F et al.
Thrombosis Research, 2017
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