Hennekam Syndrome Latest Advances

Find the Latest Research About Hennekam Syndrome

Last Updated: 02/24/2026

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Found 38 publications

Recurrent pericardial effusion due to Hennekam lymphangiectasia-lymphedema syndrome: a case report and literature review.

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.

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.

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.

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.

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.

Cation Channelopathies: Novel Insights into Generalized Lymphatic Dysplasia.

Journal: Circulation research
Published: July 21, 2022

Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.

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.

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.

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.

Journal: TheScientificWorldJournal
Published: October 22, 2020

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Journal: Medicine
Published: July 08, 2020

Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1

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.

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.

Journal: European journal of medical genetics
Published: May 29, 2020
Showing 1-12 of 38

Last Updated: 02/24/2026