The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?
Abstract Mutations in the ERCC5 gene can lead to different clinical phenotypes, few articles have reported the clinical phenotypes in detail and explained the relationship between genotype and phenotype. The clinical data of cases with ERCC5 gene mutations diagnosed in our center and reported in pre...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-12-01
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| Series: | Pediatric Discovery |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/pdi3.71 |
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