title: [Johanson-Blizzard syndrome].
authors.affiliation: Division of Neonatology, Gunma Children's Medical Center.
authors.forename: Takenobu
authors.initials: T
authors.lastname: Koizumi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D003937:Diagnosis, Differential; D005260:Female; D040181:Genetic Diseases, X-Linked; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D009666:Nose / Q000002:abnormalities*; D011379:Prognosis; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome; D016388:Tooth Loss / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases