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Overview of included studies for PFBC-PDGFRB:
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.1973T>C
c.2083C>T
c.2959C>T
c.676C>T
Country
France
Italy
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ramos, 2018
Mutational screen
1
C
100%
11
p.Arg226Cys
: het
Sanchez-Contreras, 2014
Mutational screen
1
C
0%
78
p.Arg695Cys
: het
Nicolas, 2013
Other/Mixed
2
C
0%
54
p.Leu658Pro
: het
p.Arg987Trp
: het
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
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