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Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient
BACKGROUND: Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes. CASE PRESENTATION: We present a female newborn that consulted at the emerge...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449997/ https://www.ncbi.nlm.nih.gov/pubmed/30953504 http://dx.doi.org/10.1186/s12887-019-1463-1 |