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Natalia Lekston

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Open access Aug 2026

Less than One in a Million, a Rare Case of Sensenbrenner Syndrome

At one year, whole-exome sequencing identified two heterozygous pathogenic WDR19 variants, confirming Sensenbrenner syndrome, and the child remains under multidisciplinary medical care aimed at monitoring disease progression and supporting development.

Natalia Lekston, Karolina Krzywiecka, Natalia Pilśniak et al. · Current Genetic Medicine Rep... · 0 citations