Citation: Sa. Temtamy et al., Lenz microphthalmia syndrome: Three additional cases with rare associated anomalies, GEN COUNSEL, 11(2), 2000, pp. 147-152
Authors:
Toomes, C
James, J
Wood, AJ
Wu, CL
McCormick, D
Lench, N
Hewitt, C
Moynihan, L
Roberts, E
Woods, CG
Markham, A
Wong, M
Widmer, R
Ghaffar, KA
Pemberton, M
Hussein, IR
Temtamy, SA
Davies, R
Read, AP
Sloan, P
Dixon, MJ
Thakker, NS
Citation: C. Toomes et al., Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis, NAT GENET, 23(4), 1999, pp. 421-424