Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

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 w...

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Main Authors: Roessler, Erich, Ma, Yong, Ouspenskaia, Maia V., Lacbawan, Felicitas, Bendavid, Claude, Dubourg, Christèle, Beachy, Philip A., Muenke, Maximilian
Format: Artigo
Language:Inglês
Published: 2009
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2774849/
https://ncbi.nlm.nih.gov/pubmed/19184110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-009-0628-7
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