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Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly

Holoprosencephaly (HPE), a human developmental brain defect, usually is also associated with varying degrees of midline facial dysmorphism. Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces...

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Bibliografiske detaljer
Main Authors: Maity, Tapan, Fuse, Naoyuki, Beachy, Philip A.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2005
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1282174/
https://ncbi.nlm.nih.gov/pubmed/16282375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0507848102
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