Solomon, B. D. ; Lacbawan, F. ; Mercier, S. ; Clegg, N. J. ; Delgado, M. R. ; Rosenbaum, K. ; Dubourg, C. ; David, V. ; Olney, A. H. ; Wehner, L.-E. ; Hehr, U. ; Bale, S. ; Paulussen, A. ; Smeets, H. J. ; Hardisty, E. ; Tylki-Szymanska, A. 
; Pronicka, E. ; Clemens, M. ; McPherson, E. ; Hennekam, R. C. M. ; Hahn, J. ; Stashinko, E. ; Levey, E. ; Wieczorek, D. ; Roeder, E. ; Schell-Apacik, C. C. ; Booth, C. W. ; Thomas, R. L. ; Kenwrick, S. ; Cummings, D. A. T. ; Bous, S. M. ; Keaton, A. ; Balog, J. Z. ; Hadley, D. ; Zhou, N. ; Long, R. ; Velez, J. I. ; Pineda-Alvarez, D. E. ; Odent, S. ; Roessler, E. ; Muenke, M.
; Pronicka, E. ; Clemens, M. ; McPherson, E. ; Hennekam, R. C. M. ; Hahn, J. ; Stashinko, E. ; Levey, E. ; Wieczorek, D. ; Roeder, E. ; Schell-Apacik, C. C. ; Booth, C. W. ; Thomas, R. L. ; Kenwrick, S. ; Cummings, D. A. T. ; Bous, S. M. ; Keaton, A. ; Balog, J. Z. ; Hadley, D. ; Zhou, N. ; Long, R. ; Velez, J. I. ; Pineda-Alvarez, D. E. ; Odent, S. ; Roessler, E. ; Muenke, M. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
Solomon, B. D., Lacbawan, F., Mercier, S., Clegg, N. J., Delgado, M. R., Rosenbaum, K., Dubourg, C., David, V., Olney, A. H., Wehner, L.-E., Hehr, U., Bale, S., Paulussen, A., Smeets, H. J., Hardisty, E., Tylki-Szymanska, A., Pronicka, E. , Clemens, M., McPherson, E., Hennekam, R. C. M., Hahn, J., Stashinko, E., Levey, E., Wieczorek, D., Roeder, E., Schell-Apacik, C. C., Booth, C. W., Thomas, R. L., Kenwrick, S., Cummings, D. A. T., Bous, S. M., Keaton, A., Balog, J. Z., Hadley, D., Zhou, N., Long, R., Velez, J. I. , Pineda-Alvarez, D. E., Odent, S., Roessler, E. and Muenke, M.
(2010)
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Journal of Medical Genetics 47 (8), pp. 513-524.
Date of publication of this fulltext: 19 Dec 2024 11:34
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| Item type | Article | ||||
| Journal or Publication Title | Journal of Medical Genetics | ||||
| Publisher: | B M J PUBLISHING GROUP | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 47 | ||||
| Number of Issue or Book Chapter: | 8 | ||||
| Page Range: | pp. 513-524 | ||||
| Date | 2010 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | LOSS-OF-FUNCTION; PRENATAL-DIAGNOSIS; UNUSUAL VARIANT; SPECTRUM; POPULATION; REGION; GENE; SHH; 13Q; PERSPECTIVES; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 65908 |
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