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Article

Nijmegen breakage syndrome (NBS)

1 Jan 2012

Abstract excerpt

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 encountered most frequently among Slavic populations. The principal clinical manifestations of the syndrome are:...

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PMID: 22373003
DOI: 10.1186/1750-1172-7-13

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