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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Detalles Bibliográficos
Autores principales: Liu, Lingjuan, Zhang, Lu, Huang, Peng, Xiong, Jie, Xiao, Yangyang, Wang, Cheng, Mao, Dingan, Liu, Liqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272138/
https://www.ncbi.nlm.nih.gov/pubmed/35832578
http://dx.doi.org/10.3389/fped.2022.852903

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272138/
https://www.ncbi.nlm.nih.gov/pubmed/35832578
http://dx.doi.org/10.3389/fped.2022.852903

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