Noonan syndromeNerve root hypertrophyKRAS gene mutationRas/MAPK pathwayRASopathyWe report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait ...
PV of KAT6A, just as those of KAT6B, have been associated with syndromic developmental delay, characterized by highly expressed phenotypic heterogeneity. On the one hand, KAT6A is linked to autosomal dominant intellectual disability, craniofacial-anomalies-cardiac-defects syndrome, recently described as...