Article
The first mutation in CNGA2 in two brothers with anosmia.
Clinical genetics - 1 Sept 2015
Karstensen H G, Mang Y, Fark T, Hummel T, Tommerup N
Abstract excerpt
Isolated congenital anosmia (ICA) is a rare disorder, where otherwise healthy individuals present with an inability to smell since birth. A list of studies have described the genes involved in syndromic anosmia; however, the genetics of ICA is still in its infancy. Studies in mice show that the cyclic nucleotide-gated channel subunit CNGA2, expressed in the olfactory epithelium has a crucial role in olfactory...
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