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Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria
BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. AIMS: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. METHODS AND MATERIALS: Eight pa...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792020/ https://www.ncbi.nlm.nih.gov/pubmed/36578712 http://dx.doi.org/10.4103/ijd.ijd_207_21 |