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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.

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Article

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.



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Details

Item typeArticle
Journal or Publication TitleJournal of Medical Genetics
PublisherB M J PUBLISHING GROUP
Place of PublicationLONDON
Volume47
Number of Issue or Book Chapter8
Page Rangepp. 513-524
Date2010
Date of publication19 Dec 2024 11:34
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.1136/jmg.2009.073049DOI
KeywordsLOSS-OF-FUNCTION; PRENATAL-DIAGNOSIS; UNUSUAL VARIANT; SPECTRUM; POPULATION; REGION; GENE; SHH; 13Q; PERSPECTIVES;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID65908

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