Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Phenotypic heterogeneity in NPC1 individuals homozygous for the p.I1061T (c.T3182C) variant. (A) Age of neurological onset in eight NPC1I1061T/I1061T individuals. NPC90 and NPC91 are full siblings. (B) Annual Severity Increment Scores in these same eight NPC1I1061T/I1061T individuals. (C) Longitudinal progression of the 17-domain NPC Neurological Severity Score in these eight NPC1I1061T/I1061T individuals. * siblings.
