Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
نویسندگان
چکیده
منابع مشابه
Sudden Bilateral Sensorineural Hearing Loss Secondary to Cerebral Venous Thrombosis
Introduction: Sudden sensorineural hearing loss (SSNHL) is an important otological emergency. Up to 90% of the cases are idiopathic. Cerebral venous thrombosis (CVT) is an extremely rare identifiable cause as it only represents 0.5% of all strokes. Case Report: In this paper, an unusual case of bilateral SSNHL secondary to bilateral CVT with rapid and complete recovery is reported. The patie...
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Pituitary adenomas exhibit a wide range of behaviors. The prediction of invasion or malignant behavior in pituitary adenomas remains challenging. The objective of the present study was to identify the genetic abnormalities associated with invasion in sporadic pituitary adenomas. In the present study, the exomes of six invasive pituitary adenomas (IPA) and six non-invasive pituitary adenomas (nI...
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Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study, we identified a pathogenic missense mutation located in the variable region of the EYA4 gene for ...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2017
ISSN: 1471-2350
DOI: 10.1186/s12881-017-0499-z