Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X‐linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hyd...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Asur, Rajalakshmi S., Kimble, Danielle C., Lach, Francis P., Jung, Moonjung, Donovan, Frank X., Kamat, Aparna, Noonan, Raymond J., Thomas, James W., Park, Morgan, Chines, Peter, Vlachos, Adrianna, Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823675/
https://ncbi.nlm.nih.gov/pubmed/29193904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.350
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