Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient

Abstract 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...

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Bibliographic Details
Published in:BMC Pediatrics
Main Authors: Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho
Format: Article
Language:English
Published: BMC 2019-04-01
Subjects:
Neurofibromatosis 1
Noonan syndrome
Mutation
Ras-MAPK pathway
Signal transduction pathway
RASopathies
Online Access:http://link.springer.com/article/10.1186/s12887-019-1463-1

Internet

http://link.springer.com/article/10.1186/s12887-019-1463-1

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