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
Main Authors: Irene Baquedano Lobera (Author), Silvia Izquierdo Álvarez (Author), María Jesús Oliván del Cacho (Author)
Format: Book
Published: BMC, 2019-04-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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