Syndrom mentalniho postižení související s DYRK1A: kazuistika
| Title in English | DYRK1A-related mental disability syndrome: a case report |
|---|---|
| Authors | |
| Year of publication | 2021 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | The authors describe a proband with mental retardation caused by a pathogenic sequential variant located in the DYRK1A gene, detected by the WES method. |