From clinics to genetics : A novel stop mutation in exon 2 of the SALL4 gene causing clinical Townes- Brocks or atypical Okihiro syndrome
Author: | Constanze HasselbeckGND, H. Huber, E. Wolferstetter, P. Weber, E. Schmid, S. Markus, J. Kohlhase, Bertram Reingruber |
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URL: | https://www.medgenetik.de/de/2011/2011_1_64_GfH.pdf |
ISSN: | 1863-5490 |
Parent Title (German): | Medizinische Genetik |
Subtitle (German): | 22. Jahrestagung der Deutschen Gesellschaft für Humangenetik, 16.-18.03.2011, Regensburg, Germany |
Document Type: | Conference Proceeding |
Language: | English |
Year of Completion: | 2011 |
Release Date: | 2024/05/02 |
Volume: | 23.2011 |
Issue: | 1 |
First Page: | 146 |
Last Page: | 147 |
Open-Access-Status: | Open Access |
Licence (German): | Urheberrechtlich geschützt |