A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
Abstract Background Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb anomalies, neutropenia and a friendly character. It...
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BMC,
2020-06-01T00:00:00Z.
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