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

5 Apr 2019

Abstract excerpt

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 emergency department with refusal to eat and sleepiness. A shortened femur, thickened nucal fold and suspect for agenesis...

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PMID: 30953504
DOI: 10.1186/s12887-019-1463-1

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