A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain
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DOI: 10.1038/s10038-020-0734-x
Abstract: Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare, recessively inherited neurological condition frequently involving insensitivity to pain. The subtype, HSAN2A, results from mutations in the gene WNK1. We identified a consanguineous Pakistani… read more here.
Keywords: hsanii; insensitivity pain; pakistani family; insensitivity ... See more keywords