DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

Literature (3)

Literature for OMIM 600791: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4

Xenbase Articles:
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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes., Neal SJ,Rajasekaran A,Jusić N,Taylor L,Read M,Alfandari D,Alfandari D,Pignoni F,Moody SA, J Exp Zool B Mol Dev Evol. October 13, 2023; :1552-5015.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes., Neal SJ,Rajasekaran A,Jusić N,Taylor L,Read M,Alfandari D,Alfandari D,Pignoni F,Moody SA, J Exp Zool B Mol Dev Evol. October 13, 2023; :1552-5015.