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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Detalles Bibliográficos
Autores principales: Chrzanowska, Krystyna H, Gregorek, Hanna, Dembowska-Bagińska, Bożenna, Kalina, Maria A, Digweed, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314554/
https://www.ncbi.nlm.nih.gov/pubmed/22373003
http://dx.doi.org/10.1186/1750-1172-7-13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314554/
https://www.ncbi.nlm.nih.gov/pubmed/22373003
http://dx.doi.org/10.1186/1750-1172-7-13

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