Total: 1 |
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PMID (PMCID) | ||
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20353920 |
FEMALE | Child |
[Nijmegen Breakage syndrome]. | ||
Erdos M, Toth B, Juhasz P, Mahdi M, Marodi L. Orv Hetil. 2010;151(16):665-73. |
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Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. |