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.