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Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome
Rhabdoid tumour predisposition syndrome (RTPS) is a rare syndrome caused by inheritance of a mutated INI1 gene for which only two multigeneration families have been reported. To further characterise the genotype and phenotype of RTPS, we present a third family in which at least three cousins develop...
| Autores principales: | , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2361463/ https://www.ncbi.nlm.nih.gov/pubmed/18087273 http://dx.doi.org/10.1038/sj.bjc.6604156 |