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Overview of included studies for DYT-HPCA:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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.225C>A
c.308G>A
c.30delC
Country
Iran
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Atasu, 2018
Family study
2
C
100%
9(+/-12)
p.W103X
: hom
p.P10PfsTer80
: hom
Charlesworth, 2015
Family study
3
JO
33%
5(+/-4)
p.Asn75Lys
: hom
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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