Proceedings
(Aug 2019)
Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases
- Laura Castilla-Vallmanya,
- Roser Urreizti,
- Héctor Franco,
- Jeanne Amiel,
- Tiong Y. Tan,
- Luitgard Graul Neumann,
- Christopher T. Gordon,
- Daniel Grinberg
Affiliations
- Laura Castilla-Vallmanya
- Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, 08028 Barcelona, Spain
- Roser Urreizti
- Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, 08028 Barcelona, Spain
- Héctor Franco
- Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, 08028 Barcelona, Spain
- Jeanne Amiel
- Tiong Y. Tan
- VCGS, Murdoch Children’s Research Institute, University of Melbourne, Parkville 3052, Australia
- Luitgard Graul Neumann
- Institute of Human Genetics, Charité Universitätsmedizin, 10117 Berlin, Germany
- Christopher T. Gordon
- Daniel Grinberg
- DOI
-
https://doi.org/10.3390/proceedings2019022053
- Journal volume & issue
-
Vol. 22,
no. 1
p.
53
Abstract
Read online
Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized bymultiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual andpsychomotor delay. [...]
Keywords
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