Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)
Conclusion: This case expands our understanding of the phenotypic diversity of FOP and the functional versatility of ACVR1-mediated bone morphogenetic protein (BMP) signaling.
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/crig/9569275 |
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