| Autor: |
Kristin W, Barañano, Amy, Kimball, Susan L, Fong, Alena S, Egense, Catherine, Hudon, Antonie D, Kline |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Journal of child neurology. 37(5) |
| ISSN: |
1708-8283 |
| Popis: |
Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange syndrome is made clinically or on the basis of an identified variant in one of the genes associated with Cornelia de Lange syndrome. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
