Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.

Ghosh, Partha S

Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. [electronic resource] - Journal of child neurology Dec 2012 - 1602-6 p. digital

Publication Type: Case Reports; Journal Article

1708-8283

10.1177/0883073812437242 doi


Basic Helix-Loop-Helix Leucine Zipper Transcription Factors--genetics
Charcot-Marie-Tooth Disease--complications
Electroencephalography
Facies
Humans
Hyperventilation--complications
Infant
Intellectual Disability--complications
Magnetic Resonance Imaging
Male
Transcription Factor 4
Transcription Factors--genetics