Mutations in the telomere capping complex in bone marrow failure and related syndromes
Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be one of defective telomere maintenance. Recently, biallelic CTC1 mutations have been described in patients with syndromes overlapping Coats plu...
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| Principais autores: | , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Ferrata Storti Foundation
2013-03-01
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| Serier: | Haematologica |
| Online adgang: | https://haematologica.org/article/view/6579 |
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