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Patella

Discuss literature indexed with the corpus topic “Patella”.

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Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
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A Meier-Gorlin syndrome mutation impairs the loading of the MCM2-7 complex during DNA replication initiation.
Patella
Molecular impacts of Meier-Gorlin syndrome mutations on human origin licensing.
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Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing.
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[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism].
Patella
Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five-Generation Family.
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Unexpected molecular mechanism of Orc6-based Meier-Gorlin syndrome: insights from a humanized Drosophila model.
Patella
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.
Patella
Cryo-EM structure of DNA-unbound human MCM2–7 complex reveals new disease-relevant regulation
Patella
Unexpected Molecular Mechanism of Orc6-Based Meier-Gorlin Syndrome: Insights from a Humanized Drosophila Model
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