Domain disruption and mutation of the bZIP transcription factor, MAF , associated with cataract, ocular anterior segment dysgenesis and coloboma

By Munier F.  

Human Molecular Genetics, Vol. 11, Iss. 1, 2002-01 ,pp. : 33-42

Oxford University Press

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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

By Van Agtmael Tom  

Human Molecular Genetics, Vol. 14, Iss. 21, 2005-11 ,pp. : 3161-3168

Oxford University Press

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Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts

By Semina E.V.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 231-236

Oxford University Press

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Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis

By Berry Fred B.   Lines Matthew A.   Footz Tim   Underhill D. Alan   Gage Philip J.   Walter Michael A.  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 905-919

Oxford University Press

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Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders

By Kozlowski Kathy   Walter Michael A.  

Human Molecular Genetics, Vol. 9, Iss. 14, 2000-09 ,pp. : 2131-2139

Oxford University Press

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