Associated Papers
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.
Martin-Almedina S et al.
Physiological Reviews, 2021
[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
Ren Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
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
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P et al.
Bmc Medical Genetics, 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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