| 1 | NF1, NFFS |
| A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. | |
| Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lazaro C, Estivill X. | |
| Am J Hum Genet 62(4):834-41. 1998 | |