Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide
Marziye Saeediye,
Farshid Parvini
Abstract:Background
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 objectives were the delineation of gene mutation causing this rare condition and comparison of observed manifestations… Show more
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