A novel variant in MITF in a child from Yunnan-Guizhou Plateau with autosomal dominant inheritance of nonsyndromic hearing loss: A case report. [electronic resource]
Producer: 20180830Description: 6054-6058 p. digitalISSN:- 1791-3004
- Adult
- Alleles
- Amino Acid Substitution
- Child
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Deafness -- diagnosis
- Female
- Genes, Dominant
- Genetic Association Studies
- Genetic Variation
- Genotype
- Hearing Tests
- Humans
- Magnetic Resonance Imaging
- Male
- Microphthalmia-Associated Transcription Factor -- genetics
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Tomography, X-Ray Computed
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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