Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Abstract Background TCF4 acts as a transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5 motif. Dominant variants in TCF4 are associated with the manifestation of Pitt-Hopkins syndrome, a rare disease characterized by severe mental retardation, certain features of facial dysmorphi...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BMC
2024-07-01
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| Cyfres: | Skeletal Muscle |
| Pynciau: | |
| Mynediad Ar-lein: | https://doi.org/10.1186/s13395-024-00348-0 |
| Tagiau: |
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