Condition: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
rs121918353
in
JAG1
gene and
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
PMID 20437614
2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
PMID 12022040
2002 Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.