PHARC syndrome: an overview
Abstract PHARC, polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and cataracts, or PHARC is a very rare progressive neurodegenerative autosomal recessive disease caused by biallelic mutations in the ABHD12 (a/b-hydrolase domain containing 12) gene, which encodes a lyso-phosphati...
Tallennettuna:
| Päätekijät: | , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMC
2024-11-01
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| Sarja: | Orphanet Journal of Rare Diseases |
| Aiheet: | |
| Linkit: | https://doi.org/10.1186/s13023-024-03418-0 |
| Tagit: |
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