Table 6 Other findings, associated mutations and percentage of expression in our cohort
From: New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study
Other clinical features | N° Patients | Associated mutations (number of cases) | % |
|---|---|---|---|
Winged shoulder blades | 3 | PTPN11 (2) SOS1 (1) | 9% |
Hypotonia | 3 | PTPN11 (2) RAF1 (1) | 9% |
Feet defects | 3 | 2 PTPN11 (2) Negative genetic test (1) | 9% |
Angioma | 2 | PTPN11 (1) SOS1 (1) | 6% |
Single atrioventricular valve | 2 | PTPN11 (1) Negative genetic test (1) | 6% |
Clinodactyly | 2 | PTPN11 (2) | 6% |
High arched palate | 1 | PTPN11 (1) | 3% |
Corpus callosum agenesis | 1 | Negative genetic test (1) | 3% |
Epilepsy | 1 | RAF1 (1) | 3% |
Erythromelalgia | 1 | SOS1 (1) | 3% |
Raynaud’s phenomenon | 1 | Negative genetic test (1) | 3% |
Laryngomalacia | 1 | KRAS (1) | 3% |
Microcephaly | 1 | PTPN11 (1) | 3% |
Umbilical hernia | 1 | Negative genetic test (1) | 3% |
Ischemic heart disease | 1 | Negative genetic test (1) | 3% |
Osteopenia | 1 | Negative genetic test (1) | 3% |