Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

Autor: J. L. J. M. Teepen, Cees C. Tijssen, M P W A Houben, A. C. J. Ammerlaan, Theo J. M. Hulsebos, Pieter Wesseling, A Ararou, Frank Baas

Publikováno v: British journal of cancer, 98(2), 474-479. Nature Publishing Group
British Journal of Cancer, 98, 2, pp. 474-9
British Journal of Cancer, 98, 474-9
British Journal of Cancer

Item does not contain fulltext 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 phe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39feb5f246e8a963472f7a03c4dd451e
https://pure.amc.nl/en/publications/longterm-survival-and-transmission-of-ini1mutation-via-nonpenetrant-males-in-a-family-with-rhabdoid-tumour-predisposition-syndrome(37a4697b-80eb-4be4-a195-e7844d47744f).html