A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia. [electronic resource]
Producer: 20050928Description: 70-2 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Agenesis of Corpus Callosum
- Base Sequence
- Brain -- abnormalities
- Chromosomes, Human, X -- genetics
- DNA Mutational Analysis
- Genetic Diseases, X-Linked -- genetics
- Genitalia, Male -- abnormalities
- Homeodomain Proteins -- genetics
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Sequence Deletion
- Transcription Factors -- genetics
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Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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