Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review
Phelan–McDermid syndrome (PMS) is a rare genetic disorder primarily caused by deletions or structural alterations of chromosome 22q13, often involving the SHANK3 gene. However, mutations in other genes, such as CELSR1, or deletions in the interstitial regions of 22q13 contribute to the phenotypic va...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI AG
2025-02-01
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| Serier: | Applied Sciences |
| Fag: | |
| Online adgang: | https://www.mdpi.com/2076-3417/15/4/2195 |
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