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NARA Subscribed2
Publisher
Springer Nature2
Journal
Familial Cancer2
Publication Year
20222
Timo Staab results 2 · Newest (Page 1/1, per page 25)
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Correction to: Infantile fibrosarcoma with TPN3-NTRK3 fusion in a boy with Bloom SyndromeNARA Subscribed
Familial Cancer · 2022 · Vol. 21 · Issue 1 · Springer
Sue M. Huson; Timo Staab; Marta Pereira; Heather Ward; Roberto Paredes; D. Gareth Evans; Daniel Baumhoer; James O’Sullivan; Ed Cheesman; Detlev Schindler; Stefan Meyer
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Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndromeNARA Subscribed
Familial Cancer · 2022 · Vol. 21 · Issue 1 · Springer
Sue M. Huson; Timo Staab; Marta Pereira; Heather Ward; Roberto Paredes; D. Gareth Evans; Daniel Baumhoer; James O’Sullivan; Ed Cheesman; Detlev Schindler; Stefan Meyer
Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM . We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c...
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