Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant

Fanconi anemia (FA) is a clinically heterogenous and genetically diverse disease with 22 known complementation groups (FA-A to FA-W), resulting from the inability to repair DNA interstrand cross-links. This rare disorder is characterized by congenital defects, bone marrow failure, and cancer predisp...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: Lach, Francis P., Singh, Sonia, Rickman, Kimberly A., Ruiz, Penelope D., Noonan, Raymond J., Hymes, Kenneth B., DeLacure, Mark D., Kennedy, Jennifer A., Chandrasekharappa, Settara C., Smogorzewska, Agata
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2020
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7784490/
https://ncbi.nlm.nih.gov/pubmed/33172906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005595
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