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Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6.

Uwe R KordesVictor-Felix MautnerFlorian OyenChristian HagelChristian HartmannMichael HeuserMichael FrühwaldMartin HasselblattKathrin Oehl-HuberReiner SiebertReinhard SchneppenheimUlrich Schüller
Published in: Pediatric blood & cancer (2021)
Keyphrases
  • case report