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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Detalles Bibliográficos
Autores principales: Martins, Davi Jardim, Di Lazzaro Filho, Ricardo, Bertola, Debora Romeo, Hoch, Nícolas Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Aging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10676203/
https://www.ncbi.nlm.nih.gov/pubmed/38021400
http://dx.doi.org/10.3389/fragi.2023.1296409

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10676203/
https://www.ncbi.nlm.nih.gov/pubmed/38021400
http://dx.doi.org/10.3389/fragi.2023.1296409

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