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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Bibliographic Details
Main Authors: van der Lelij, Petra, Oostra, Anneke B., Rooimans, Martin A., Joenje, Hans, de Winter, Johan P.
Format: Artigo
Language:Inglês
Published: Hindawi Publishing Corporation 2010
Subjects:
Clinical Study
Online Access: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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