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Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy  

MOLECULAR SYNDROMOLOGY

Trizuljak, J; Duben, J; Blaháková, I; Vrzalová, Z; Stano Kozubík, K; Stika, J; Radová, L; Bergerová, V; Mejstríková, S; Horínová, V; Jancálek, R; Pospísilová, S; Doubek, M, 2023: Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. MOLECULAR SYNDROMOLOGY 14(5), p. 439 - 448, doi: 10.1159/000528744

Research Groups:

• Medical Genomics
• CF: Genomics Core Facility

CEITEC authors:

• Jakub Trizuljak
• Ivona Blaháková
• Zuzana Vrzalová, Ph.D.
• Kateřina Staňo Kozubík, Ph.D.
• Jiří Štika, Ph.D.
• Lenka Radová, Ph.D.
• Soňa Mejstříková
• Prof. Šárka Pospíšilová, Ph.D.
• Prof. Michael Doubek, Ph.D.