Table 2 Phenotype in published cases with confirmed R681X mutation of NF1
No of patients with R681X/Total No of study participants | Phenotype | Reference | |
|---|---|---|---|
Authors | Journal [Reference No] | ||
3/189 | Learning disability (2 cases) | Ars E et al. | J Med Genet 2003 [13] |
1/16 | Optic glioma; Stargardt’s disease | Gerth C et al. | Graefes Arch Clin Exp Ophtalmol 2002 [22] |
4/500 | ? | Fashold M et al. | Am J Hum Genet 2000 [7] |
1/108 | ? | Origone P et al. | Hum Mut 2002 [14] |
1/3 | Cutaneous neurofibromas | Maertens O et al. | Hum Genet 2007 [32] |
1 | Optic glioma + Precocious puberty | Kocova M et al. | BMC Endocr Disord |