Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the "Thorny" Cochlea.
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ABSTRACT:
SUBMITTER: D'Arco F
PROVIDER: S-EPMC9835904 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the "Thorny" Cochlea.
D'Arco F F Biswas A A Clement E E Rajput K K Juliano A F AF
AJNR. American journal of neuroradiology 20221222 1
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 assessme ...[more]
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