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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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2023-11-01
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| Serie: | Frontiers in Aging |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fragi.2023.1296409/full |
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