Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 38 publications
Recurrent pericardial effusion due to Hennekam lymphangiectasia-lymphedema syndrome: a case report and literature review.
Journal: BMC cardiovascular disorders
Published: March 10, 2025
Identification of a Novel FLT4 c.3028A>C Variant Associated With Milroy Disease.
Journal: Clinical genetics
Published: September 25, 2024
A case report of Hennekam syndrome with a mutation in the CCBE1 gene.
Journal: Clinical dysmorphology
Published: March 05, 2024
Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.
Journal: Journal of investigational allergology & clinical immunology
Published: February 07, 2023
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Journal: BMC bioinformatics
Published: November 23, 2022
Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia.
Journal: Circulation research
Published: July 21, 2022
Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
Journal: Journal of clinical immunology
Published: April 17, 2021
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.
Journal: European journal of medical genetics
Published: February 18, 2021
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.
Journal: TheScientificWorldJournal
Published: October 22, 2020
Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 31, 2020
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.
Journal: European journal of medical genetics
Published: May 29, 2020
Last Updated: 10/31/2025