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Marta Guzmán Pérez

Publications of : Marta Guzmán Pérez
Human Genetics   Case Reports

Noonan syndrome: Discovering new mutations?

We present the case of a 50-year-old white male that was brought to the emergency services due to the presence of speech disturbances and drowsiness in the past four or five days. He did not have any other symptoms apart from those but in the physical examination, some clinical characteristics were identified and could suggest the existence of a genetic syndrome, such as: Short stature, low .. Read More»

Genet. Mol. Res. 23(4):