Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Nikola KresojevićValerija DobričićMilica Ječmenica LukićAleksandra TomićIgor PetrovićNataša DragaševićIvana PerovićAna MarjanovićMarija BrankovićMilena JankovicIvana NovakovićMarina SvetelVladimir S KostićPublished in: Journal of neurology (2022)
Clinical findings were in line with the expected, but the diagnostic delay was common. We hypothesize that the presence of c.2861C>T, p.S954L mutation may contribute to the phenotype attenuation.
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