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

doi:10.3390/proceedings2019022053

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. [...]

Published in Proceedings

ISSN: 2504-3900 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: General Works
Website: http://www.mdpi.com/journal/proceedings

About the journal

Abstract

Keywords