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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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TBCK syndrome: a rare multi-organ neurodegenerative disease

Emily L Durham1, Rajesh Angireddy1, Aaron Black1

  • 1Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.

Trends in Molecular Medicine
|July 16, 2023
PubMed

Keywords:
bone abnormalitiesdevelopmental delayhypotonianeurodegenerationneurological disorderrespiratory complications

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