| 1 | FBN1, KPSI |
| Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. | |
| Ades LC, Sreetharan D, Onikul E, Stockton V, Watson KC, Holman KJ. | |
| Am J Med Genet 109(4):261-70. 2002 | |