Article
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Human genetics - 1 May 2009
Roessler Erich, Ma Yong, Ouspenskaia Maia V, Lacbawan Felicitas, Bendavid Claude, Dubourg Christèle, Beachy Philip A, Muenke Maximilian
Abstract excerpt
Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HPE 10 locus of human chromosome 1q41, as a HPE candidate gene. Here, we describe two independent...
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