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 4. Dysmorphic features of the proband. From 0–3 years of age. (A–C) dysmorphic features in the first year of life: high forehead/frontal bossing, broad nasal bridge, epicanthic folds, low-set ears, macrotia, overfolded helix, short nose, thin upper lip vermilion; (D–F) dysmorphic features during the second year of life; (G, H) dysmorphic features during the third year of life.

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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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