HINT1 neuropathy: Expanding the genotype and phenotype spectrum
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DOI: 10.1111/cge.14198
Abstract: Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33… read more here.
Keywords: spectrum hint1; phenotype; hint1; hint1 neuropathy ... See more keywords