Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma.

Abstract excerpt

Cholesteatoma is a rare progressive disease of the middle ear. Most cases are sporadic, but some patients report a positive family history. Identifying functionally important gene variants associated with this disease has the potential to uncover the molecular basis of cholesteatoma pathology with implications for disease prevention, surveillance, or management. We performed an observational WES study of 21...

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