Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

https://t.co/czCDRkuKSI

https://t.co/3FPyOl8L6n "Two forms of this syndrome have been described, a severe neonatal form that causes infantile death and a more benign form with a longer survival into the fourth decade"

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients https://t.co/3FPyOl8L6n