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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823675/
https://www.ncbi.nlm.nih.gov/pubmed/29193904
http://dx.doi.org/10.1002/mgg3.350

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