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

Other TitlesNeuropatía auditiva autosómica dominante y variante DIAPH3 (c.-173C>T)
AuthorsSánchez-Martínez, Ana; Benito-Orejas, José I.; Tellería, Juan José ; Alonso, Maria Jesús
Issue Date2017
PublisherElsevier España
CitationActa Otorrinolaringológica Española 68(3): 183-185 (2017)
AbstractClinical Case: We present a family that has 5 members: the parents and 3 children, 41, 44 and 43 years old, respectively. Ofthese, the father, the son and one of the daughters have poor hearing. There is a family history of other cases of deafness.
Identifiersdoi: 10.1016/j.otorri.2016.06.004
e-issn: 1988-3013
issn: 0001-6519
Appears in Collections:(IBGM) Artículos
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