Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. [electronic resource]
Producer: 20060621Description: 11-7 p. digitalISSN:- 1090-3798
- Brain -- pathology
- DNA-Binding Proteins -- genetics
- Demyelinating Diseases -- diagnostic imaging
- Female
- Growth -- physiology
- High Mobility Group Proteins -- genetics
- Hirschsprung Disease -- diagnostic imaging
- Humans
- Infant, Newborn
- Magnetic Resonance Imaging
- Muscle Hypotonia -- genetics
- Mutation
- Neural Conduction -- physiology
- Neurologic Examination
- Radiography
- SOXE Transcription Factors
- Syndrome
- Transcription Factors -- genetics
- Waardenburg Syndrome -- diagnostic imaging
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Publication Type: Case Reports; Journal Article
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