Nijmegen breakage syndrome - NBS: а rare clinical case in Kazakhstan
Nijmegen syndrome is a primary immunodeficiency characterized by chromosomal instability, microcephaly, physical retardation, specific disorders of the facial skeleton, as well as a predisposition to cancer. Most patients of Slavic origin have a homozygous mutation with the del5 founder effect in th...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
National Scientific Medical Center,
2024-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |