A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies

<div>Sanger sequencing confirmed the homozygosity of the patient and heterozygosity of his parents for c.8698 G &gt; T, p.E2900X in the VPS13B gene.</div>

Case Reports in Immunology

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Figure 1

Figure 1: A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies 