Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)
Abstract Background Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum...
Furkejuvvon:
| Váldodahkkit: | , , , |
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| Materiálatiipa: | Artigo |
| Giella: | Inglês |
| Almmustuhtton: |
BMC
2025-01-01
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| Ráidu: | Italian Journal of Pediatrics |
| Fáttát: | |
| Liŋkkat: | https://doi.org/10.1186/s13052-025-01858-3 |
| Fáddágilkorat: |
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