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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| Format: | Livre |
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BMC,
2019-04-01T00:00:00Z.
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