Condition: Mild conductive hearing impairment


rs137854544 in CTSA gene and Mild conductive hearing impairment PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.

PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.