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GE-13 A NOVEL ASSOCIATION OF PRIMARY CNS GERMINOMA IN A PATIENT WITH NAIL PATELLA SYNDROME
Nail patella syndrome (NPS) is an autosomal dominant disorder with a prevalence of 1/50,000 characterized by developmental abnormalities of the nails, knees and elbows, as well as renal dysplasia and open angle glaucoma. NPS is caused by a mutation in the LMX1B gene, a transcription factor involved...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4218177/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/neuonc/nou256.13 |
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