Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases
| Autor: | Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Proceedings, Vol 22, Iss 1, p 53 (2019) |
| Druh dokumentu: | article |
| ISSN: | 2504-3900 20190220 |
| DOI: | 10.3390/proceedings2019022053 |
| Popis: | 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. [...] |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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