Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations
Abstract Farber disease (FD; OMIM #228000), also known as Farber's lipogranulomatosis, is a rare lysosomal storage disease caused by acid ceramidase deficiency. Clinically, FD is typically identified by a triad of symptoms: subcutaneous nodules, joint pain, and voice hoarseness. However, diagnosing...
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| Główni autorzy: | , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
SpringerOpen
2024-12-01
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| Seria: | Egyptian Journal of Medical Human Genetics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s43042-024-00621-3 |
| Etykiety: |
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