Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

CONCLUSION: Our results highlight the advantage of using WES for genetic diagnosis in highly heterogeneous diseases such as IPNs. Moreover, functional analysis is required for novel and uncertain variants.
PMID: 32657593 [PubMed - in process]

Source: Archives of Iranian Medicine - June 30, 2020 Category: Middle East Health Authors: Taghizadeh S, Vazehan R, Beheshtian M, Sadeghinia F, Fattahi Z, Mohseni M, Arzhangi S, Nafissi S, Kariminejad A, Najmabadi H, Kahrizi K Tags: Arch Iran Med Source Type: research