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Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040734/ https://www.ncbi.nlm.nih.gov/pubmed/33832920 http://dx.doi.org/10.1101/mcs.a005751 |