Publication details

Syndrom mentalniho postižení související s DYRK1A: kazuistika

Title in English DYRK1A-related mental disability syndrome: a case report
Authors

SLABÁ Kateřina PÁLOVÁ Hana VESELÁ Petra KONEČNÁ Petra KOLBOVA Lucie JABANDŽIEV Petr PROCHÁZKOVÁ Dagmar

Year of publication 2021
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

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.

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