Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patient...
Detalhes bibliográficos
| Main Authors: |
Snoeckx, Rikkert L.,
Huygen, Patrick L. M.,
Feldmann, Delphine,
Marlin, Sandrine,
Denoyelle, Françoise,
Waligora, Jaroslaw,
Mueller-Malesinska, Malgorzata,
Pollak, Agneszka,
Ploski, Rafal,
Murgia, Alessandra,
Orzan, Eva,
Castorina, Pierangela,
Ambrosetti, Umberto,
Nowakowska-Szyrwinska, Ewa,
Bal, Jerzy,
Wiszniewski, Wojciech,
Janecke, Andreas R.,
Nekahm-Heis, Doris,
Seeman, Pavel,
Bendova, Olga,
Kenna, Margaret A.,
Frangulov, Anna,
Rehm, Heidi L.,
Tekin, Mustafa,
Incesulu, Armagan,
Dahl, Hans-Henrik M.,
du Sart, Desirée,
Jenkins, Lucy,
Lucas, Deirdre,
Bitner-Glindzicz, Maria,
Avraham, Karen B.,
Brownstein, Zippora,
del Castillo, Ignacio,
Moreno, Felipe,
Blin, Nikolaus,
Pfister, Markus,
Sziklai, Istvan,
Toth, Timea,
Kelley, Philip M.,
Cohn, Edward S.,
Van Maldergem, Lionel,
Hilbert, Pascale,
Roux, Anne-Françoise,
Mondain, Michel,
Hoefsloot, Lies H.,
Cremers, Cor W. R. J.,
Löppönen, Tuija,
Löppönen, Heikki,
Parving, Agnete,
Gronskov, Karen,
Schrijver, Iris,
Roberson, Joseph,
Gualandi, Francesca,
Martini, Alessandro,
Lina-Granade, Geneviève,
Pallares-Ruiz, Nathalie,
Correia, Céu,
Fialho, Graça,
Cryns, Kim,
Hilgert, Nele,
Van de Heyning, Paul,
Nishimura, Carla J.,
Smith, Richard J. H.,
Van Camp, Guy |
|---|
| Formato: | Artigo
|
|---|
| Idioma: | Inglês |
|---|
| Publicado em: |
The American Society of Human Genetics
2005
|
|---|
| Assuntos: | |
|---|
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1285178/
https://ncbi.nlm.nih.gov/pubmed/16380907
|
|---|
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|
|---|