Article
Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.
American journal of medical genetics. Part A - 1 Mar 2026
Kim Gabriela Jeesoo, Malaquias Alexsandra Christianne, Bertola Debora Romeo, Rezende Raissa Carneiro, Cellin Laurana De Polli, Pires Lucas Vieira Lacerda, Santillan-Vasconez Ana Maria, Lerario Antônio Marcondes, Scalco Renata da Cunha, Jorge Alexander Augusto de Lima
Abstract excerpt
Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap with other syndromes. In this retrospective study, we reviewed 192...
Topics
- Humans
- Noonan Syndrome
- Male
- Female
- Child, Preschool
- Child
- Exome Sequencing
- Infant
- Phenotype
- Adolescent