Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Royer-Bertrand, B; Cisarova, K; Niel, Bütschi, F; Foletti, G; Guinchat, V; Tran, C; Superti-Furga, A; Good, JM.
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Am J Med Genet A. 2021; 185(8): 2602-2606.
Doi: 10.1002/ajmg.a.62343
(- Case Report)
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PubMed
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- Co-Autor*innen der Med Uni Graz
- Vizar Cisarova Katarina
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- Adult - administration & dosage
- Autistic Disorder - diagnosis, genetics
- Facies - administration & dosage
- Genetic Association Studies - administration & dosage
- Genetic Predisposition to Disease - administration & dosage
- Haploinsufficiency - administration & dosage
- Humans - administration & dosage
- Intellectual Disability - diagnosis, genetics
- Loss of Function Mutation - administration & dosage
- Male - administration & dosage
- Phenotype - administration & dosage
- Repressor Proteins - genetics
- Seizures - diagnosis, genetics