Associated Papers
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
Jackson CC et al.
Journal of Clinical Immunology, 2016
Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
Roukens MG et al.
Circulation Research, 2015
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.
Alders M et al.
Molecular Syndromology, 2013
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