Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1

Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A. AlHarbi, Ana C. González-Álvarez, Stefan T. Arold, Namik Kaya*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Biochemistry, Genetics and Molecular Biology