NIJMEGEN BREAKAGE SYNDROME
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661d...
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| Hoofdauteurs: | , , , , |
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| Formaat: | Artigo |
| Taal: | Russo |
| Gepubliceerd in: |
Union of pediatricians of Russia
2012-06-01
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| Reeks: | Педиатрическая фармакология |
| Onderwerpen: | |
| Online toegang: | https://www.pedpharma.ru/jour/article/view/334 |
| Tags: |
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