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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
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: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares