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

Authors :: Kordes U
Mautner VF
Oyen F
Hagel C
Hartmann C
Heuser M
Frühwald M
Hasselblatt M
Oehl-Huber K
Siebert R
Schneppenheim R
Schüller U
Source :: Pediatric blood & cancer [Pediatr Blood Cancer] 2021 Oct; Vol. 68 (10), pp. e29185. Date of Electronic Publication: 2021 Jun 08.
Publication Year :: 2021

Subjects :: Biomarkers, Tumor
Exons
Humans
Phenotype
Brain Neoplasms genetics
Kidney Neoplasms genetics
Rhabdoid Tumor genetics
SMARCB1 Protein genetics

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