Article

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study

2022-08-10

Abstract excerpt

<h4>Background: </h4> Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in the pediatric population is most certainly underestimated. The difficulty in identifying Noonan syndrome is also increased by the fact that genetic tests are currently...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e76a9134-0582-5752-9cc6-189793d500e3
DOI: 10.21203/rs.3.rs-1919075/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective studyDOI 10.21203/rs.3.rs-1919075/v1Read

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.Semantic proximity Read

Noonan syndrome – a new surveySemantic proximity Read

[Clinical and genetic analysis of Noonan syndrome in 20 children].Semantic proximity Read

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.Semantic proximity Read

Noonan syndrome: improving recognition and diagnosis.Semantic proximity Read

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read

[Clinical practice guidelines for Noonan syndrome].Semantic proximity Read

Noonan syndrome.Semantic proximity Read

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.Semantic proximity Read

Noonan syndrome: introduction and basic clinical features.Semantic proximity Read

Concurrent Noonan Syndrome and Sanjad-Sakati Syndrome in a Newborn: First Genetically Confirmed Dual DiagnosisSemantic proximity Read