CHROMOSOMAL INSTABILITY AND IMMUNODEFICIENCY – ESSENTIAL FOR THE DIAGNOSIS OF NIJMEGEN SYNDROME
Introduction: Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to the group of chromosomal instability syndromes, more prevalent in Central and Eastern Europe. Clinical case: We describe the case of a 14-month-old boy, born to Ukrainian parents, that presented at...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Centro Hospitalar do Porto
2017-07-01
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| Series: | Nascer e Crescer |
| Subjects: | |
| Online Access: | http://revistas.rcaap.pt/nascercrescer/article/view/9562 |