Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report
Abstract Background Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. Case presentation We report on a Saudi boy with RSTS Type 1 and the f...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-01-01T00:00:00Z.
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| Subjects: | |
| 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 |