Article
Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.
Clinical genetics - 1 Oct 2026
Akbaş Esma Nur Konur, Toksoy Güven, Avcı Şahin, Altunoğlu Umut, Kalaycı Tuğba, Sayın Gözde Yeşil, Kayserili Hülya, Uyguner Zehra Oya, Aslanger Ayça Dilruba
Abstract excerpt
RASopathies comprise a group of congenital malformation syndromes with predominant neuro-cardio-facial-cutaneous involvement resulting from pathogenic variants in RAS/mitogen-activated protein kinase (MAPK) signaling pathway genes. In this study 33 patients are presented with their clinical and molecular findings as an RASopathy cohort including a family with an AMMECR1-related disorder. The diagnostic...
Read the complete abstract on PubMedTopics
- Humans
- Noonan Syndrome
- Female
- Phenotype
- Male
- Child, Preschool