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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-04-01
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Series: | BMC Pediatrics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12887-019-1463-1 |