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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: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | 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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