title: Clinical utility gene card for: Johanson-Blizzard syndrome.
authors: Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
authors: Maja
authors: M
authors: Sukalo
authors: Department of Medicine A, University Medicine, Ernst-Moritz-Arndt-University Greifswald, Greifswald, Germany.
authors: Julia
authors: J
authors: Mayerle
authors: Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
authors: Martin
authors: M
authors: Zenker
mesh_terms: D001006:Anus, Imperforate / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D009666:Nose / Q000002:abnormalities*; D010182:Pancreatic Diseases / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases
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