Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum

Conclusions: A novel XPV pathogenic homozygous nonsense mutation in the POLH gene was identified. Our case proves that next-generation sequencing is an effective method for the rapid diagnosis and determination of XP genetic aetiology.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research