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

Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized by<br />multiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual and<br />psychomotor delay. [...]

Bibliographic Details
Published in:Proceedings
Main Authors: Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg
Format: Article
Language:English
Published: MDPI AG 2019-08-01
Subjects:
genetic disease
developmental delay
rare disease
Online Access:https://www.mdpi.com/2504-3900/22/1/53

Internet

https://www.mdpi.com/2504-3900/22/1/53

Similar Items