Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene

By Villanueva-Mendoza Cristina   Martinez-Guzman Oswaldo   Rivera-Parra David   Zenteno Juan Carlos  

Ophthalmic Genetics, Vol. 30, Iss. 1, 2009-03 ,pp. : 45-49

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Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families

By Wei Qinjun   Xu Dan   Chen Zhibin   Li Haifeng   Lu Yajie   Liu Cheng   Bu Xingkuan   Xing Guangqian   Cao Xin  

International Journal of Audiology, Vol. 52, Iss. 2, 2013-02 ,pp. : 98-103

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Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene

By Kondo Hiroyuki   Qin Minghui   Tahira Tomoko   Uchio Eiichi   Hayashi Kenshi  

Ophthalmic Genetics, Vol. 28, Iss. 4, 2007-10 ,pp. : 220-223

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Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

By Eksandh Louise   Bakall Benjamin   Bauer Birgitta   Wadelius Claes   Andréasson Sten  

Ophthalmic Genetics, Vol. 22, Iss. 2, 2001-06 ,pp. : 107-115

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Autosomal Dominant Congenital Nuclear Cataracts Caused by a CRYAA Gene Mutation

By Li Fei-Feng   Yang Min   Ma Xu   Zhang Qiong   Zhang Meng   Wang Shu-Zhen   Zhu Si-Quan  

Current Eye Research, Vol. 35, Iss. 6, 2010-06 ,pp. : 492-498

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