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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Paediatrician Publishers, LLC
2012-06-01
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| Colecção: | Pediatričeskaâ Farmakologiâ |
| Assuntos: | |
| Acesso em linha: | https://www.pedpharma.ru/jour/article/view/334 |
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