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Overview of included studies for ATX-TBP:
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
Country
Belgium
China
Denmark
Finland
France
Germany
Greece
India
Ireland
Italy
Japan
Mexico
South Korea
Spain
Taiwan
Thailand
United Kingdom
United States
Zimbabwe
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Oda, 2004
Other/Mixed
8
n.a.
38%
39(+/-13)
: het
Maltecca, 2003
Family study
4
n.a.
50%
24(+/-15)
: het
Rolfs, 2003
Case report/Case series
11
n.a.
55%
26(+/-10)
: het
Stevanin, 2003
Mutational screen
2
C
0%
26(+/-4)
: het
Zühlke, 2003
Family study
4
n.a.
50%
38(+/-4)
: het
Silveira, 2002
Mutational screen
1
n.a.
100%
52
: het
Fujigasaki, 2001
Mutational screen
2
n.a.
0%
45(+/-15)
: het
Nakamura, 2001
Mutational screen
7
A
57%
33(+/-11)
: het
Zühlke, 2001
Mutational screen
5
C
25%
27(+/-10)
: het
Koide, 1999
Mutational screen
1
A
0%
6
: het
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