DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. [electronic resource]
Producer: 20150727Description: 327-32 p. digitalISSN:- 1552-4876
- Abnormalities, Multiple -- etiology
- Carrier Proteins -- genetics
- Chromosomal Proteins, Non-Histone -- genetics
- Craniofacial Abnormalities -- etiology
- DNA-Binding Proteins -- genetics
- Exome
- Face -- abnormalities
- GTPase-Activating Proteins
- Genetic Association Studies
- Hand Deformities, Congenital -- etiology
- Hearing Loss, Sensorineural -- etiology
- Humans
- Intellectual Disability -- etiology
- Membrane Proteins
- Micrognathism -- etiology
- Mutation
- Nails, Malformed -- etiology
- Neck -- abnormalities
- Nerve Tissue Proteins
- SMARCB1 Protein
- Seizures -- genetics
- Transcription Factors -- genetics
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Publication Type: Comparative Study; Journal Article
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