Point mutations in a distant sonic hedgehog cis -regulator generate a variable regulatory output responsible for preaxial polydactyly

By Lettice Laura A.   Hill Alison E.   Devenney Paul S.   Hill Robert E.  

Human Molecular Genetics, Vol. 17, Iss. 7, 2008-04 ,pp. : 978-985

Oxford University Press

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Expression of the Sonic hedgehog ( SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

By Odent S.   Attié-Bitach T.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1683-1689

Oxford University Press

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The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly

By Nanni Luisa  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2479-2488

Oxford University Press

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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

By Furniss Dominic   Lettice Laura A.   Taylor Indira B.   Critchley Paul S.   Giele Henk   Hill Robert E.   Wilkie Andrew O.M.  

Human Molecular Genetics, Vol. 17, Iss. 16, 2008-08 ,pp. : 2417-2423

Oxford University Press

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Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway

By Patterson Victoria L.   Damrau Christine   Paudyal Anju   Reeve Benjamin   Grimes Daniel T.   Stewart Michelle E.   Williams Debbie J.   Siggers Pam   Greenfield Andy   Murdoch Jennifer N.  

Human Molecular Genetics, Vol. 18, Iss. 10, 2009-05 ,pp. : 1719-1739

Oxford University Press

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