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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Paediatrician Publishers, LLC
2012-06-01
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| Series: | Pediatričeskaâ Farmakologiâ |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/334 |