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...
Na minha lista:
| Principais autores: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Russo |
| Publicado em: |
Union of pediatricians of Russia
2012-06-01
|
| coleção: | Педиатрическая фармакология |
| Assuntos: | |
| Acesso em linha: | https://www.pedpharma.ru/jour/article/view/334 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|