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Overview of included studies for DYT-KCTD17:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.434G>A
c.508-1G>C
c.508-2A>T
Country
Argentina
Germany
Italy
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Marcé-Grau, 2019
Case report/Case series
1
n.a.
100%
n.a.
c.508-1G>C
: het
Graziola, 2019
Case report/Case series
1
C
0%
n.a.
c.508-2A>T
: het
Mencacci, 2015
Family study
8
C
50%
10(+/-5)
p.Arg145His
: het
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Dec. 2, 2020. Version: 3.5.95
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