A novel Drosophila model for neurodevelopmental disorders associated with Shwachman–Diamond syndrome
Abstract
Genetic defects in ribosome biogenesis result in a group of diseases called ribosomopathies. Patients with ribosomopathies manifest multiorgan phenotypes, including neurological impairments. A well-characterized ribosomopathy, Shwachman-Diamond syndrome (SDS), is mainly associated with loss-of-function mutations in the causal gene SBDS. Children with SDS have neurodevelopmental disorders; however, the neurological consequences of SBDS...
Paper Details
Title
A novel Drosophila model for neurodevelopmental disorders associated with Shwachman–Diamond syndrome
Published Date
Nov 1, 2020
Journal
Volume
739
Pages
135449 - 135449
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