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Genetics Clinical Grand Rounds: "Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling"

Program Goal:

1 To recognize a novel autosomal dominant cause of neurodevelopmental disorders and multiple congenital anomalies associated with the MYH10 gene to facilitate diagnosis of patients and families with this disorder.

2 To understand that altered primary cilia biology and disrupted Hedgehog signaling is a key feature of the mechanism of this disorder. 3 To appreciate an emerging link between actomyosin dynamics and primary cilia length control with implications for vertebrate organogenesis and disease states.

3 To appreciate an emerging link between actomyosin dynamics and primary cilia length control with implications for vertebrate organogenesis and disease states.

https://yale.zoom.us/j/92732690431?pwd=cnRlRjgyeGhVNDY1YkxKcXhQN1JTQT09

Meeting ID: 92732690431

Zoom passcode: 941427

Speaker

  • Boston Children's Hospital

    Alexander Holtz, MD, PhD
    Clinical Fellow/Postdoctoral Associate

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Host Organization

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Free

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Grand Rounds

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