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Literature for DOID 0110498: autosomal recessive nonsyndromic deafness 4
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. |