Autosomal dominant auditory neuropathy and variant DIAPH3 (c.-173C>T)

Acta Otorrinolaringol Esp (Engl Ed). 2017 May-Jun;68(3):183-185. doi: 10.1016/j.otorri.2016.06.004. Epub 2016 Sep 19.

[Article in English, Spanish]

Authors

Ana Sánchez-Martínez¹, José I Benito-Orejas², Juan J Tellería-Orriols³, María J Alonso-Ramos³

Affiliations

¹ Servicio de Otorrinolaringología y Patología Cérvico-Facial, Hospital Clínico Universitario, Valladolid, España.
² Servicio de Otorrinolaringología y Patología Cérvico-Facial, Hospital Clínico Universitario, Valladolid, España. Electronic address: [email protected].
³ Instituto de Biología y Genética Molecular, Universidad de Valladolid/CSIC, Valladolid, España.

PMID: 27658576
DOI: 10.1016/j.otorri.2016.06.004

No abstract available

Publication types

Case Reports

MeSH terms

5' Untranslated Regions / genetics
Adaptor Proteins, Signal Transducing / genetics*
Adult
Chromosomes, Human, Pair 13 / genetics
Female
Formins
Genes, Dominant
Hair Cells, Auditory, Inner / pathology*
Hearing Loss, Bilateral / genetics*
Hearing Loss, Bilateral / pathology
Hearing Loss, Central / genetics*
Hearing Loss, Central / pathology
Humans
Male
Middle Aged
Pedigree

Substances

5' Untranslated Regions
Adaptor Proteins, Signal Transducing
DIAPH3 protein, human
Formins

Supplementary concepts

Auditory neuropathy