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Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, IBUB, IRSJD, CIBERER, 08028 Barcelona, Spain
Institute of Human Genetics, Charité Universitätsmedizin, 10117 Berlin, Germany
VCGS, Murdoch Children’s Research Institute, University of Melbourne, Parkville 3052, Australia
Author to whom correspondence should be addressed.
Presented at the 2nd Molecules Medicinal Chemistry Symposium (MMCS): Facing Novel Challenges in Drug Discovery, Barcelona, Spain, 15–17 May 2019.
Proceedings 2019, 22(1), 53;
Published: 8 August 2019
(This article belongs to the Proceedings of The Molecules Medicinal Chemistry Symposium)
PDF [138 KB, uploaded 8 August 2019]
Note: In lieu of an abstract, this is an excerpt from the first page.


Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized by
multiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual and
psychomotor delay. [...]
Keywords: genetic disease; developmental delay; rare disease genetic disease; developmental delay; rare disease
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Castilla-Vallmanya, L.; Urreizti, R.; Franco, H.; Amiel, J.; Tan, T.Y.; Neumann, L.G.; Gordon, C.T.; Grinberg, D. Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases. Proceedings 2019, 22, 53.

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