A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive disorder with predominant sensory dysfunction and severe complications such as limb destruction. There are different subtype...

Source: BMC Neurology - November 29, 2018 Category: Neurology Authors: Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani and Sareh Asadi Tags: Research article Source Type: research