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

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

Human molecular genetics - 28 Jul 2026

Yang Guangxian, Ren Haoran, Wang Jinghua, Chen Weijian, Li Xiaoming, Chen Si, Chen Huafei, Zhao Lina, Fan Wenwen, Xiao Sheng

Abstract excerpt

Lymphatic malformations (LMs) can lead to severe clinical complications, including disfigurement and even death. While genomic alterations have been identified in LMs, the genomic landscape of complex LMs remains poorly defined due to their rarity. In this study, we report two novel findings: an NRAS p.Q61R mutation in central conducting lymphatic anomaly (CCLA) and a PPFIBP1::ROS1 fusion in Gorham-Stout disease...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to NRAS gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ROS1 gene

Share to GTP Phosphohydrolases

Share to Membrane Proteins

Share to Mutation

Share to Oncogene Proteins, Fusion

Source

Identifiers

PMID: 42544506
DOI: 10.1093/hmg/ddag070

Genes

PPFIBP1
ROS1
NRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.PMID 42544506Read ↗

Imaging of lymphatic dysplasia in Noonan syndrome: Case studies and historical atlas.Semantic proximity Read ↗

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

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

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

Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for TherapySemantic proximity Read ↗

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

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

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findingsSemantic proximity Read ↗

Expansion of the Phenotype of Lymphatic Anomalies Caused by Somatic Activating BRAF VariantSemantic proximity Read ↗

Somatic NRAS mutation in patient with generalized lymphatic anomaly.Semantic proximity Read ↗

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

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

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