Sanchez-Contreras, 2014: Overview of all reported PFBC-PDGFRB patients

Index patientSex Ethnicity Country of originAAO Family history Symptoms Initial symptoms Reported mutations
Yesn.g.USA78YesAtypical sign/sympt.,
Bradykinesia,
Parkinsonism,
Postural instability,
Rigidity,
Speech disturbance

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Postural instabilityp.Arg695Cys: n.g.