Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

Fanconi anemia (FA) is a recessively inherited disease characterized by multiple symptoms including growth retardation, skeletal abnormalities, and bone marrow failure. The FA diagnosis is complicated due to the fact that the clinical manifestations are both diverse and variable. A chromosomal break...

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Bibliografski detalji
Glavni autori: van der Lelij, Petra, Oostra, Anneke B., Rooimans, Martin A., Joenje, Hans, de Winter, Johan P.
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2010
Teme:
Clinical Study
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3065841/
https://ncbi.nlm.nih.gov/pubmed/21490908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2010/565268
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