Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Italian journal of dermatology and venereology(2023)

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摘要
Targeted exome resequencing can provide a rapid and accurate diagnosis of EDs, while further contributing to the existing ED genetic data. Moreover, the identification of the disease-causing mutation in an affected family is crucial for proper genetic counseling and the establishment of a genotype-phenotype correlation which will subsequently provide the affected individuals with a more suitable treatment plan.
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ectodermal dysplasia,panel target genes,target genes,possible diagnostic tool
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