Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

Mario Ćuk; Luka Lovrenčić; Busra Unal; McKenzie Walker; Connor P. Hayes; Goran Krakar; Robert Beluzić; Ivona Sansović; Goran Pavliša; Arezou A. Ghazani

doi:10.12659/AJCR.943641

12 July 2024 : Case report USA

Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

Challenging differential diagnosis, Rare disease, Clinical situation which can not be reproduced for ethical reasons

Mario Ćuk^1ADEFG, Luka Lovrenčić

^1CDEF, Busra Unal^2CDEF, McKenzie Walker^2CDE, Connor P. Hayes

^2CDE, Goran Krakar^3DEF, Robert Beluzić^4DEF, Ivona Sansović^5DEF, Goran Pavliša^6DEF, Arezou A. Ghazani^278ABDEFG*

DOI: 10.12659/AJCR.943641

Am J Case Rep 2024; 25:e943641

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Figure 3. EEG of the patient. At the age of 3 years, EEG showed mild right parietooccipital focal epileptogenic discharges. (A) Monopolar montage; (B) Bipolar longitudinal montage.

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Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis

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