Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding <i>ERCC6</i> Gene in a Taiwanese Boy with Cockayne Syndrome
Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (<i>ERCC6</i>) gene that encodes the CS group B (CSB) protein. Using whole ex...
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| Autores principales: | , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
MDPI AG
2021
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/2f06896b361347308d379e7f110296a8 |
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