Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic mutations causing DSH have been identified...

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Detalles Bibliográficos
Autores principales: Ma, Qian, Che, Lingyi, Chen, Yibing, Gu, Zhuoyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354868/
https://www.ncbi.nlm.nih.gov/pubmed/37476031
http://dx.doi.org/10.3389/fped.2023.1161502

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