Nijmegen breakage syndrome

*Gene map locus 8q21

Ataxia-telangiectasia variant V1

Berlin breakage syndrome

Immunodeficiency, microcephaly, and chromosomal instability

Microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies

NBS

Nonsyndromal microcephaly, autosomal recessive, with normal intelligence

Seemanova syndrome II

[Clinical features: microcephaly; bird-like face; growth retardation; immunodeficiency; predisposition to cancer]

[Inheritance: autosomal recessive]


Nijmegen breakage syndrome -- The International Nijmegen Breakage Syndrome Study Group	Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome
Archives of Disease in Childhood	eMedicine	eMedicine


Nijmegen Breakage Syndrome	A novel mutation and novel features in Nijmegen breakage syndrome	Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
eMedicine	Journal of Medical Genetics	Journal of Medical Genetics


Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability	Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1
Journal of Medical Genetics	Journal of Medical Genetics

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Edited by Aldo Campana, August 21, 2012