Category: Frontiers

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

Lingjuan Liu, et al.

Introduction Dyschromatosis symmetrica hereditaria (DSH) shows the pattern of autosomal dominant inheritance. It is characterized by the freckle-like pigmentation or hypopigmentation spots on the backs of hands and feet, presenting…