Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000568
Abstract: Objective To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic panels, we performed whole-exome sequencing in a cohort of well-characterized… read more here.
Keywords: exome sequencing; sensory autonomic; whole exome; congenital sensory ... See more keywords