A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis
DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause u...
| Autores principales: | , , , , , , , , |
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| Formato: | info:ar-repo/semantics/artículo |
| Lenguaje: | Inglés |
| Publicado: |
Springer
2025
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| Materias: | |
| Acceso en línea: | http://hdl.handle.net/20.500.12123/21729 https://link.springer.com/article/10.1007/s12020-024-04098-3 https://doi.org/10.1007/s12020-024-04098-3 |
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