A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report
White-Sutton Syndrome (WHSUS) is a rare neurodevelopmental genetic disorder with an autosomal dominant mode of inheritance. Truncating mutations in pogo transposable element with zinc finger domain (POGZ) gene have been reported in cases of WHSUS. In this article, we present the first diagnosed case...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-11-01
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| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024160884 |
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