Minkelen, R. van

mutation patient family deletion syndrome parkin analysis spred legius syndrome /duplication legiu study department diagnosis genetic disease frontotemporal lobar degeneration deletions /duplications result genet grn mutations duplication neurofibromatosi parkinson brain feature table university rearrangement family history noonan progranulin netherland haplotype 4 del +/ frontotemporal neurofibroma breakpoint freckling report degeneration parkinsonism center brain mri phenotype sd head circumference exon 7 duplication messiaen parkin deletions /duplications neurology nf 1 gene 5-6 del +/ problem missense proband individual difficulty corticobasal rigidity children germline tumor pathology freckling height spred 1 mutations atrophy spred 1 mutation lisch nodules denayer mlpa results cutaneous neurofibromas frontotemporal dementia probe problems type 4 del -/ parkin gene deletion /duplication neurofibromatosis type 1 tremor exon 4 deletion