Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

doi:10.3390/ijms27167348

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

Community

Back to search

Article

Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.

International journal of molecular sciences - 17 Aug 2026

Meneses Fernanda, Quintero Carlos, Lores Juliana, Gómez-Pineda Eidith, Ramírez-Montaño Diana, Candelo Estephania, Pachajoa Harry

Abstract excerpt

RASopathies are a group of genetic disorders caused by germline variants affecting the RAS/MAPK pathway. Their shared phenotypic features-craniofacial anomalies, cardiac defects, cutaneous findings, neurodevelopmental issues, and cancer predisposition-make diagnosis challenging, especially since most lack standardized clinical criteria. This study aimed to develop a practical diagnostic algorithm based on...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Algorithms
Share to Child
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to ras Proteins

Share to Terminology as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 42653352
DOI: 10.3390/ijms27167348
PMCID: PMC13513118

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.