Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
Introduction Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor predisposition. However, genotype–phenotype corr...
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| Автори: | , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Medwave Estudios Limitada
2026-01-01
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| Серія: | Medwave |
| Предмети: | |
| Онлайн доступ: | https://www.medwave.cl/investigacion/estudios/3155.html |
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