Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review
Abstract Background This study presents an adult 7p21 deletion patient, including a literature review specific to 7p21 deletion, and concludes recommendations toward such patients. A 47-year-old male with moderate-to-severe learning disability and significant dysmorphic features was seen in our Medi...
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| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-03-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Online Access: | https://doi.org/10.1186/s43042-025-00674-y |
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