Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. [electronic resource]
Producer: 20130509Description: 1602-6 p. digitalISSN:- 1708-8283
- 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
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Publication Type: Case Reports; Journal Article
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