Article
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
American journal of medical genetics. Part A - 1 Nov 2022
Swarts Jessie W, Kleimeier Lotte E R, Leenders Erika K S M, Rinne Tuula, Klein Willemijn M, Draaisma Jos M T
Abstract excerpt
Noonan syndrome (NS) has been associated with an increased risk of lymphatic anomalies, with an estimated prevalence of 20%. The prevalence of lymphatic anomalies seems to differ between pathogenic variants. Therefore, this study aims to describe the clinical presentation, prevalence and genotype-phenotype correlations of lymphatic anomalies during life in patients with NS. This retrospective cohort study...
Topics
- Female
- Genetic Association Studies
- Genotype
- Humans
- Noonan Syndrome
- Pregnancy
- Retrospective Studies