title: [The LEOPARD-syndrome].
authors.forename: F
authors.initials: F
authors.lastname: Maser
authors.forename: L
authors.initials: L
authors.lastname: Iwers
authors.forename: O
authors.initials: O
authors.lastname: Majdani
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D019929:Cochlear Implantation; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics / Q000534:rehabilitation; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D044542:LEOPARD Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000534:rehabilitation; D017354:Point Mutation; D054594:Protein Tyrosine Phosphatase, Non-Receptor Type 12; D014443:Tyrosine / Q000235:genetics
chemical_list: D014443:Tyrosine; C516738:PTPN12 protein, human; D054594:Protein Tyrosine Phosphatase, Non-Receptor Type 12; D003545:Cysteine