Overview of included studies for PFBC-PDGFRB:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Sanchez-Contreras, 2014Mutational screennone1Cn.g.78p.Arg695Cys: het
Nicolas, 2013Other / Mixednone2Cn.g.54p.Arg987Trp: het
p.Leu658Pro: het