Nijmegen breakage syndrome (NBS)

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5) the disease is encounte...

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Bibliographic Details
Main Authors: Chrzanowska, Krystyna H, Gregorek, Hanna, Dembowska-Bagińska, Bożenna, Kalina, Maria A, Digweed, Martin
Format: Artigo
Language:Inglês
Published: BioMed Central 2012
Subjects:
Review
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3314554/
https://ncbi.nlm.nih.gov/pubmed/22373003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-13
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