Fig. 2From: Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implicationsSequencing results of the de novo mutation in the PPP1CB gene. The arrow indicates an A-to-C substitution at nucleotide 548 (c.548A > C, p.Glu183Ala) in the patient (a). This gene was normal in his father (b) and mother (c)Back to article page