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

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

Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance. The pathogenic gene is adenosine deaminase acting on the RNA 1 gene (ADAR1), mutations in this gene also lead to...

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Bibliographic Details
Main Authors: Lingjuan Liu, Lu Zhang, Peng Huang, Jie Xiong, Yangyang Xiao, Cheng Wang, Dingan Mao, Liqun Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Pediatrics
Subjects:
AGS 6
DSH
ADAR1 homozygous mutations
PDA
VSD
mitral valve calcification
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.852903/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.852903/full

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