Associated Papers
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.
Martin-Almedina S et al.
Physiological Reviews, 2021
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Shinwari K et al.
Thescientificworldjournal, 2021
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
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M et al.
Nature Genetics, 2009
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