Authors:
Toomes, C
Marchbank, NJ
Mackey, DA
Craig, JE
Newbury-Ecob, RA
Bennett, CP
Vize, CJ
Desai, SP
Black, GCM
Patel, N
Teimory, M
Markham, AF
Inglehearn, CF
Churchill, AJ
Citation: C. Toomes et al., Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy, HUM MOL GEN, 10(13), 2001, pp. 1369-1378
Authors:
van Bokhoven, H
Hamel, BCJ
Bamshad, M
Sangiorgi, E
Gurrieri, F
Duijf, PHG
Vanmolkot, KRJ
van Beusekom, E
van Beersum, SEC
Celli, J
Merkx, GFM
Tenconi, R
Fryns, JP
Verloes, A
Newbury-Ecob, RA
Raas-Rotschild, A
Majewski, F
Beemer, FA
Janecke, A
Chitayat, D
Crisponi, G
Kayserili, H
Yates, JRW
Neri, G
Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492