Overview of included studies for PFBC-PDGFB:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Keogh, 2015 Family study none 4 n.g. 0 32 (+/-9) p.Pro122Leu: het
Hayashi, 2015 Family study none 1 A 100 64 p.Arg149*: het
Nicolas, 2014 Case report / Case series none 1 C 0 25 p.Glu54Aladel147: het
Nicolas, 2014 Case report / Case series none 1 C 0 10 p.Gln147*: het
Keller, 2013 Other / Mixed none 13 C 46 36 (+/-18) p.Gln145*: het;
p.Met1?: het;
p.*242Tyrext*89: het;
p.Leu9Arg: het;
p.Leu119Pro: het

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