Hereditary sensory neuropathy type 1E is an autosoal dominant disorder caused by mutations of the DNMT1 gene.
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Wright A et al. (1995) Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia. |
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Hojo K et al. (1999) Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study. |
3. |
Klein CJ et al. (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. |
4. |
Klein CJ et al. (2013) DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. |
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OMIM.ORG article Omim 614116 |