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

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 i...

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Detalles Bibliográficos
Autores principales: Cardenas, Ryan, Prinsley, Peter, Philpott, Carl, Bhutta, Mahmood F., Wilson, Emma, Brewer, Daniel S., Jennings, Barbara A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10016674/
https://www.ncbi.nlm.nih.gov/pubmed/36920900
http://dx.doi.org/10.1371/journal.pone.0272174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10016674/
https://www.ncbi.nlm.nih.gov/pubmed/36920900
http://dx.doi.org/10.1371/journal.pone.0272174

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