Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report
Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 and TBX5 genes, offering a deeper unde...
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| Main Authors: | R. Leonardi, G. Pellino, E. Floridia, M. Lo Bianco, M. Ruggieri, SY. Cho, V. Pavone, P. Pavone, A. Polizzi |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2025-03-01
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| Series: | Global Medical Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S269994042400033X |
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