Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases
oleh: Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg
| Format: | Article |
|---|---|
| Diterbitkan: | MDPI AG 2019-08-01 |
Deskripsi
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. [...]