Condition: TOWNES-BROCKS SYNDROME 1
rs104894537
in
SALL1
gene and
TOWNES-BROCKS SYNDROME 1
PMID 14627694
2003 High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
PMID 26380986
2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.