A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
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DOI: 10.1186/s12881-020-01055-5
Abstract: The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4… read more here.
Keywords: congenital deafness; triobp gene; deafness; family ... See more keywords