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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發表在:	BMC Pediatrics
Main Authors:	Irene Baquedano Lobera, Silvia Izquierdo Álvarez, María Jesús Oliván del Cacho
格式:	Article
語言:	英语
出版:	BMC 2019-04-01
主題:	Neurofibromatosis 1 Noonan syndrome Mutation Ras-MAPK pathway Signal transduction pathway RASopathies
在線閱讀:	http://link.springer.com/article/10.1186/s12887-019-1463-1