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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

Fanconi anemia (FA) is a rare inherited syndrome with diverse clinical symptoms including developmental defects, short stature, bone marrow failure, and a high risk of malignancies. Fifteen genetic subtypes have been distinguished so far. The mode of inheritance for all subtypes is autosomal recessi...

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Detalles Bibliográficos
Autores principales: Oostra, Anneke B., Nieuwint, Aggie W. M., Joenje, Hans, de Winter, Johan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3368163/
https://www.ncbi.nlm.nih.gov/pubmed/22693659
http://dx.doi.org/10.1155/2012/238731