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Lacbawan, F. ; Solomon, B. D. ; Roessler, E. ; El-Jaick, K. 
; Domene, S. ; Velez, J. I. ; Zhou, N. ; Hadley, D. ; Balog, J. Z. ; Long, R. ; Fryer, A. ; Smith, W. ; Omar, S. ; McLean, S. D. ; Clarkson, K. ; Lichty, A. ; Clegg, N. J. ; Delgado, M. R. ; Levey, E. ; Stashinko, E. ; Potocki, L. ; VanAllen, M. I. ; Clayton-Smith, J. ; Donnai, D. ; Bianchi, D. W. ; Juliusson, P. B. ; Njolstad, P. R. ; Brunner, H. G. ; Carey, J. C. ; Hehr, U. ; Musebeck, J. ; Wieacker, P. F. ; Postra, A. ; Hennekam, R. C. M. ; van den Boogaard, M.-J. H. ; van Haeringen, A. ; Paulussen, A. ; Herbergs, J. ; Schrander-Stumpel, C. T. R. M. ; Janecke, A. R. ; Chitayat, D. ; Hahn, J. ; McDonald-McGinn, D. M. ; Zackai, E. H. ; Dobyns, W. B. ; Muenke, M.
; Domene, S. ; Velez, J. I. ; Zhou, N. ; Hadley, D. ; Balog, J. Z. ; Long, R. ; Fryer, A. ; Smith, W. ; Omar, S. ; McLean, S. D. ; Clarkson, K. ; Lichty, A. ; Clegg, N. J. ; Delgado, M. R. ; Levey, E. ; Stashinko, E. ; Potocki, L. ; VanAllen, M. I. ; Clayton-Smith, J. ; Donnai, D. ; Bianchi, D. W. ; Juliusson, P. B. ; Njolstad, P. R. ; Brunner, H. G. ; Carey, J. C. ; Hehr, U. ; Musebeck, J. ; Wieacker, P. F. ; Postra, A. ; Hennekam, R. C. M. ; van den Boogaard, M.-J. H. ; van Haeringen, A. ; Paulussen, A. ; Herbergs, J. ; Schrander-Stumpel, C. T. R. M. ; Janecke, A. R. ; Chitayat, D. ; Hahn, J. ; McDonald-McGinn, D. M. ; Zackai, E. H. ; Dobyns, W. B. ; Muenke, M. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Lacbawan, F., Solomon, B. D., Roessler, E., El-Jaick, K., Domene, S., Velez, J. I. , Zhou, N., Hadley, D., Balog, J. Z., Long, R., Fryer, A., Smith, W., Omar, S., McLean, S. D., Clarkson, K., Lichty, A., Clegg, N. J., Delgado, M. R., Levey, E., Stashinko, E., Potocki, L., VanAllen, M. I., Clayton-Smith, J., Donnai, D., Bianchi, D. W., Juliusson, P. B., Njolstad, P. R., Brunner, H. G., Carey, J. C., Hehr, U., Musebeck, J., Wieacker, P. F., Postra, A., Hennekam, R. C. M., van den Boogaard, M.-J. H., van Haeringen, A., Paulussen, A., Herbergs, J., Schrander-Stumpel, C. T. R. M., Janecke, A. R. , Chitayat, D., Hahn, J., McDonald-McGinn, D. M., Zackai, E. H., Dobyns, W. B. and Muenke, M.
(2009)
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
Journal of Medical Genetics 46 (6), pp. 389-398.
Date of publication of this fulltext: 19 Dec 2024 12:06
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| Item type | Article | ||||
| Journal or Publication Title | Journal of Medical Genetics | ||||
| Publisher: | BMJ PUBLISHING GROUP | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 46 | ||||
| Number of Issue or Book Chapter: | 6 | ||||
| Page Range: | pp. 389-398 | ||||
| Date | 2009 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | HUMAN SIX3 GENE; CALIFORNIA POPULATION; FOREBRAIN DEVELOPMENT; VENTRAL FOREBRAIN; EYE DEVELOPMENT; NEURAL PLATE; EXPRESSION; DEFECTS; BRAIN; SPECIFICATION; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Partially | ||||
| Item ID | 67134 |
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