Article
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
International journal of pediatric otorhinolaryngology - 1 Jan 2018
Cesca Federica, Bettella Elisa, Polli Roberta, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessandra
Abstract excerpt
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for...
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