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...

Descripción completa

Detalles Bibliográficos
Autores principales: van der Lelij, Petra, Oostra, Anneke B., Rooimans, Martin A., Joenje, Hans, de Winter, Johan P.
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2010
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065841/
https://www.ncbi.nlm.nih.gov/pubmed/21490908
http://dx.doi.org/10.1155/2010/565268

Ejemplares similares

Ejemplares similares