Article
A role for TENM1 mutations in congenital general anosmia.
Clinical genetics - 1 Sept 2016
Alkelai A, Olender T, Haffner-Krausz R, Tsoory M M, Boyko V, Tatarskyy P, Gross-Isseroff R, Milgrom R, Shushan S, Blau I, Cohn E, Beeri R, Levy-Lahad E, Pras E, Lancet D
Abstract excerpt
Congenital general anosmia (CGA) is a neurological disorder entailing a complete innate inability to sense odors. While the mechanisms underlying vertebrate olfaction have been studied in detail, there are still gaps in our understanding of the molecular genetic basis of innate olfactory disorders. Applying whole-exome sequencing to a family multiply affected with CGA, we identified three members with a rare...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.