Article
Identifying candidate genes underlying isolated congenital anosmia.
Clinical genetics - 1 Apr 2024
Kamarck Marissa L, Trimmer Casey, Murphy Nicolle R, Gregory Kristen M, Manoel Diogo, Logan Darren W, Saraiva Luis R, Mainland Joel D
Abstract excerpt
An estimated 1 in 10 000 people are born without the ability to smell, a condition known as congenital anosmia, and about one third of those people have non-syndromic, or isolated congenital anosmia (ICA). Despite the significant impact of olfaction for our quality of life, the underlying causes of ICA remain largely unknown. Using whole exome sequencing (WES) in 10 families and 141 individuals with ICA, we...
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