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Research Article

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

  • Jennifer F. Dennis,

    Affiliations: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America, Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, United States of America

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  • Hiroshi Kurosaka,

    Affiliation: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America

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  • Angelo Iulianella,

    Affiliations: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America, Department of Anatomy and Neurobiology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada

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  • Jennifer Pace,

    Affiliation: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America

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  • Nancy Thomas,

    Affiliation: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America

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  • Sharon Beckham,

    Affiliation: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America

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  • Trevor Williams,

    Affiliation: Department of Cell Biology, Stem Cells, and Development, University of Colorado Denver, Aurora, Colorado, United States of America

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  • Paul A. Trainor mail

    pat@stowers.org

    Affiliations: Stowers Institute for Medical Research, Kansas City, Missouri, United States of America, Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, United States of America

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  • Published: October 04, 2012
  • DOI: 10.1371/journal.pgen.1002927

About the Authors

Jennifer F. Dennis, Hiroshi Kurosaka, Angelo Iulianella, Jennifer Pace, Nancy Thomas, Sharon Beckham, Paul A. Trainor
Stowers Institute for Medical Research, Kansas City, Missouri, United States of America
Jennifer F. Dennis, Paul A. Trainor
Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, United States of America
Angelo Iulianella
Department of Anatomy and Neurobiology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
Trevor Williams
Department of Cell Biology, Stem Cells, and Development, University of Colorado Denver, Aurora, Colorado, United States of America

Corresponding Author

Email: pat@stowers.org

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: JFD HK PAT. Performed the experiments: JFD HK AI JP NT SB PAT. Analyzed the data: JFD HK AI JP TW PAT. Contributed reagents/materials/analysis tools: TW. Wrote the paper: JFD HK AI TW PAT.