A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

By Chatterjee K.  

Human Molecular Genetics, Vol. 11, Iss. 17, 2002-06 ,pp. : 2051-2059

Oxford University Press

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A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

By Qi Yanhua   Jia Hongyan   Huang Shangzhi   Lin Hui   Gu Jingzhi   Su Hong   Zhang Tieying   Gao Ya   Qu Lijun   Li Dandan   Li Ying  

Human Genetics, Vol. 114, Iss. 2, 2004-01 ,pp. : 192-197

Springer Publishing Company

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A novel DFNA5 mutation does not cause hearing loss in an Iranian family

By Laer Lut   Meyer Nicole   Malekpour Mahdi   Riazalhosseini Yasser   Moghannibashi Mahdi   Kahrizi Kimia   Vandevelde Ann   Alasti Fatemeh   Najmabadi Hossein   Camp Guy   Smith Richard  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 549-552

Springer Publishing Company

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A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66, Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family

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Human Heredity, Vol. 60, Iss. 3, 2006-01 ,pp. : 123-128

Karger

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Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation

By Liu Jing   Ren Xiang   Yang Xiufeng   Guo Tangying   Yao Qi   Li Lin   Dai Xiaohua   Zhang Mingchang   Wang Lejin   Liu Mugen  

Journal of Human Genetics, Vol. 52, Iss. 6, 2007-06 ,pp. : 565-570

Springer Publishing Company

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