Condition: SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
rs782092363
in
TKT
gene and
SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS
PMID 27259054
2016 Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.