Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the 'Thorny' Cochlea

Autor:	F. D’Arco, A. Biswas, E. Clement, K. Rajput, A.F. Juliano
Rok vydání:	2022
Předmět:	Radiology Nuclear Medicine and imaging Neurology (clinical)
Zdroj:	American Journal of Neuroradiology. 44:79-81
ISSN:	1936-959X 0195-6108
DOI:	10.3174/ajnr.a7746
Popis:	With the routine use of high-resolution heavily T2-weighted sequences to evaluate patients with hearing deficits, new, subtle phenotypes of cochlear malformations are being discovered and an increasing number of genotype-phenotype correlations are being found through a reverse phenotype approach, which can help guide geneticists. In this brief report, we present subtle malformations of the apical turn of the cochlea related to 3 genetic mutations, emphasizing the importance of a careful assessment of the cochlear apex.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f3c1fc3be4ac41430d15eda380d04d https://doi.org/10.3174/ajnr.a7746 Zobrazit plný text záznamu