A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. [electronic resource]
Producer: 20110103Description: 195-197 p. digitalISSN:- 1473-5717
- Chromosomes, Human, X
- Esophagus -- abnormalities
- Female
- Genetic Diseases, X-Linked -- genetics
- Humans
- Hypertelorism -- genetics
- Hypospadias -- genetics
- Infant
- Magnetic Resonance Imaging
- Male
- Microtubule Proteins -- genetics
- Mutation, Missense
- Nuclear Proteins -- genetics
- Transcription Factors -- genetics
- Ubiquitin-Protein Ligases
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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