Article
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Human molecular genetics - 1 Sept 1999
Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de A L, Gall J Y, Le Marec B, Munnich A, David V, Vekemans M
Abstract excerpt
Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic hedgehog ( SHH ), on 7q36, has been identified as the first HPE-causing gene both in mouse and humans. In order to delineate the phenotype of specific SHH mutations, we described the expression of the SHH gene during early human embryogenesis and investigated...
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