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Overview of included studies for ATX-TBP:
Click here for summary of patients' characteristics
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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
Bonomo, 2019
Case report/Case series
2
n.a.
0%
48
: het
Kim, 2019
Case report/Case series
1
n.a.
100%
45
: het
Olszewska, 2019
Family study
4
n.a.
25%
47(+/-4)
: het
Nethisinghe, 2018
Other/Mixed
23
n.a.
n.a.
47(+/-15)
: het
Origone, 2018
Case report/Case series
1
n.a.
0%
54
: het
Choubtum, 2016
Mutational screen
16
A
44%
67(+/-14)
: het
Park, 2016
Case report/Case series
1
n.a.
100%
61
: het
Lone, 2015
Mutational screen
8
n.a.
63%
28(+/-9)
: het
Choubtum, 2015
Mutational screen
9
A
56%
34(+/-15)
: het
Shin, 2015
Mutational screen
83
A
54%
56(+/-11)
: het
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