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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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2017
Sujets:
Original Articles
Accès en ligne: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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