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