title: A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.
authors.affiliation: Department of Genetics, University of Antwerp, Belgium.
authors.forename: I M
authors.initials: IM
authors.lastname: Buntinx
authors.forename: J A
authors.initials: JA
authors.lastname: Lormans
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: J E
authors.initials: JE
authors.lastname: Dumon
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001927:Brain Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed