title: Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany. nina.hirt@uniklinik-freiburg.de.
authors: Nina
authors: N
authors: Hirt
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Katja
authors: K
authors: Eggermann
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Sonja
authors: S
authors: Hyrenbach
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Johann
authors: J
authors: Lambeck
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Andreas
authors: A
authors: Busche
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Judith
authors: J
authors: Fischer
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Sabine
authors: S
authors: Rudnik-Schöneborn
authors: From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.
authors: Harald
authors: H
authors: Gaspar
mesh_terms: D001176:Arthrogryposis / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004303:Dosage Compensation, Genetic / Q000235:genetics*; D005260:Female; D020440:Gene Duplication / Q000235:genetics; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human