Rothmund-Thomson syndrome, a disorder far from solved
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormalities. While classically associated with mutations in...
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| Principais autores: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Frontiers Media S.A.
2023-11-01
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| Serier: | Frontiers in Aging |
| Fag: | |
| Online adgang: | https://www.frontiersin.org/articles/10.3389/fragi.2023.1296409/full |
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