Inati A.; Abbas H.A.; Korjian S.; Daaboul Y.; Harajeily M.; Saab R.
(THOUSAND OAKS2455 TELLER RD, THOUSAND OAKS, CA 91320 USA, 2013)
Pitt-Hopkins syndrome is characterized by mental retardation, hyperventilation, and dysmorphic features due to TCF4 mutations. We report a case of Pitt-Hopkins syndrome in a 21-2-year-old boy presenting with psychomotor ...