Novel Mutation in Boy With Cartilage-hair Hypoplasia
Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy. Methods: We performed genetic st...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Elsevier,
2010-12-01T00:00:00Z.
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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 |