A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Katharina
K
Vill
Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Wolfgang
W
Müller-Felber
Institute of Human Genetics, Technische Universität München, Munich, Germany.
Bader
B
Alhaddad
Institute of Human Genetics, Technische Universität München, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Tim M
TM
Strom
Department of Radiology, University Medical Center Regensburg, Regensburg, Germany.|Department of Pediatric Radiology, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Veronika
V
Teusch
Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Heike
H
Weigand
Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Astrid
A
Blaschek
Institute of Human Genetics, Technische Universität München, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Thomas
T
Meitinger
Institute of Human Genetics, Technische Universität München, Munich, Germany.|Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
Tobias B
TB
Haack
D033964:Adaptor Protein Complex 4 / Q000235:genetics*; D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism; D004274:DNA, Recombinant / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D019189:Iron Metabolism Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D019150:Neuroaxonal Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics*
C000604469:AP4S1 protein, human; D033964:Adaptor Protein Complex 4; D004274:DNA, Recombinant