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Full text 2026

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case

Verdi G, Foksinska A, Nichols EL, et al.

We report the case of a 13-month-old female with multiple congenital anomalies including microcephaly, generalized hypotonia, sensorineural hearing loss, visual impairment, alopecia, and hypoplastic kidneys with chronic kidney disease, and dysmorphic craniofacial features. Extensive metabolic …

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Bioinformatics