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...

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Detalles Bibliográficos
Autores principales: Ammerlaan, A C J, Ararou, A, Houben, M P W A, Baas, F, Tijssen, C C, Teepen, J L J M, Wesseling, P, Hulsebos, T J M
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2008
Materias:
Genetics and Genomics
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

Internet

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

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