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Article

Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.

Pediatric blood & cancer - 1 Oct 2022

Janczar Szymon, Kirschner Martin, Beier Fabian, Brümmendorf Tim H, Ussowicz Marek, Babol-Pokora Katarzyna, Oszer Aleksandra, Yoshimi Ayami, Kalwak Krzysztof, Mlynarski Wojciech

Abstract excerpt

Dyskeratosis congenita (DC) is a bone marrow failure syndrome with extrahematopoietic abnormalities. DC is a paradigmatic telomere biology disorder (TBD) caused by germline mutations in genes responsible for telomere maintenance including TERT. Cryptic TBD is a bone marrow failure syndrome due to premature telomere shortening but without additional symptoms, frequently clinically indistinguishable from severe...

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PMID: 35927969
DOI: 10.1002/pbc.29909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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