SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Autor: Sebastien Albert, Pierre Bitoun, Christine Francannet, Françoise Denoyelle, Bruno Delobel, Didier Lacombe, Marie-Madeleine Eliot, Annie Sergent-Allaoui, Hélène Dollfus, Sébastien Schmerber, Alain Joannard, Pierre Chauvin, Muriel Houang, Valérie Drouin-Garraud, N. Loundon, Albert David, Erea-Noel Garabedian, Catherine Calais, Françoise Duriez, Rémy Couderc, Hélène Blons, Delphine Feldmann, Laurence Jonard, Christine Petit, Marie-Françoise Obstoy, Hélène Catros, Sandrine Marlin, Patrice Tran Ba Huy, Jacques Leman, Hubert Journel

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
European Journal of Human Genetics, Nature Publishing Group, 2006, 14, pp.773

Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved in syndromic deafness characterized by congenital se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523df4cf207fd67bcb75fa8a74cdd90c
https://www.hal.inserm.fr/inserm-00102388