Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

European journal of human genetics : EJHG - 1 Sept 2022

Liu Mandi, Smith Christopher L, Biko David M, Li Dong, Pinto Erin, O'Connor Nora, Skraban Cara, Zackai Elaine H, Hakonarson Hakon, Dori Yoav, Sheppard Sarah E

Abstract excerpt

Central conducting lymphatic anomaly (CCLA) is a heterogenous disorder caused by disruption of central lymphatic flow that may result in dilation or leakage of central lymphatic channels. There is also a paucity of known genetic diagnoses associated with CCLA. We hypothesized that specific genetic syndromes would have distinct lymphatic patterns and this would allow us to more precisely define CCLA. As a first...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cohort Studies
Share to Down Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Ion Channels

Share to Lymphatic Disorders and Treatments

Share to Lymphatic System and Diseases

Share to Phenotype

Share to Vascular Malformations and Hemangiomas

Source

Open in PubMed Open full text

Identifiers

PMID: 35606495
DOI: 10.1038/s41431-022-01123-9
PMCID: PMC9436962

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.PMID 35606495Read ↗

Central conducting lymphatic anomaly: from bench to bedside.Semantic proximity Read ↗

Genetic tests in lymphatic vascular malformations and lymphedema.Semantic proximity Read ↗

Genetic causes of lymphatic disorders: recent updates on the clinical and molecular aspects of lymphatic disease.Semantic proximity Read ↗

Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies.Semantic proximity Read ↗

Lymphatic malformations revisited: Genetics, clinics and future directionsSemantic proximity Read ↗

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.Semantic proximity Read ↗

Pathogenic variants inPIK3CAare associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomalySemantic proximity Read ↗

Genetics of lymphatic anomalies.Semantic proximity Read ↗

Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedemaSemantic proximity Read ↗

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.Semantic proximity Read ↗

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibitionSemantic proximity Read ↗

How we approach the diagnosis and management of complex lymphatic anomaliesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.