Table 2 Cohort classification according to the NIH criteria and NF1 pathogenic variation status
From: Diagnostic difficulties and possibilities of NF1-like syndromes in childhood
Clinically diagnosed and genetically confirmed NF1 | Clinically not diagnosed but genetically detected NF1 | Clinically diagnosed but genetically not confirmed NF1 | Clinically not diagnosed and genetically not detected NF1 |
|---|---|---|---|
16 patients | 4 patients | 14 patients: • 3: Legius sy. • 2: NF2 • 1: MEN2B sy. • 1: LEOPARD sy. • 1: 46,XX,inv.(4)(p13q13)dn • 6: clinically diagnosed NF1 | 6 patients: • 1: Noonan sy. • 5: no definitive genetic diagnosis |