Article
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Clinical genetics - 1 Aug 2018
Wesdorp M, Schreur V, Beynon A J, Oostrik J, van de Kamp J M, Elting M W, van den Boogaard M-J H, Feenstra I, Admiraal R J C, Kunst H P M, Hoyng C B, Kremer H, Yntema H G, Pennings R J E, Schraders M
Abstract excerpt
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal...
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