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...

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Detalles Bibliográficos
Autores principales: Baquedano Lobera, Irene, Izquierdo Álvarez, Silvia, Oliván del Cacho, María Jesús
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
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

Internet

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

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