Article

Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide

2024-02-21

Abstract excerpt

<h4>Background: </h4> Cohen syndrome (CS) is a highly rare heterogeneous disorder associated with mutations in the vacuolar protein sorting 13 homolog B ( VPS13B ) gene. CS is mainly characterized by intellectual disability, microcephaly, progressive retinopathy, hypotonia, obesity, neutropenia and dysmorphic facial features. Case presentation : Here, we report two affected siblings suspicious to CS. Our objectiv...

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Literature Corpus work: 3658f399-70e6-5344-9332-8600d4efede8
DOI: 10.21203/rs.3.rs-3942856/v1

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