A holoprosencephaly-associated transmembrane domain mutation of human SMOOTHENED (SMO) leads to hypomorphic activity for forebrain and craniofacial development in a zebrafish model

Nagai-Tanima Momoko

11:10 AM - 11:20 AM

[2G29-02] A holoprosencephaly-associated transmembrane domain mutation of human SMOOTHENED (SMO) leads to hypomorphic activity for forebrain and craniofacial development in a zebrafish model

*Nagai-Tanima Momoko^1,2、Hong Sungkook¹、Roessler Erich¹、Hu Ping¹、Carrington Blake¹、Sood Raman¹、Muenke Maximilian^1,3 (1. Human Development Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health、2. Department of Physical Therapy, Human Health Sciences, Graduate School of Medicine, Kyoto University、3. American College of Medical Genetics and Genomics)

Keywords:Holoprosencephaly、zebrafish、Knockout model

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Presentation information

[2G29] English Presentation 2

[2G29-02] A holoprosencephaly-associated transmembrane domain mutation of human SMOOTHENED (SMO) leads to hypomorphic activity for forebrain and craniofacial development in a zebrafish model

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