title: A novel MKRN3 nonsense mutation causing familial central precocious puberty.
authors.affiliation: 1st Pediatric Department, Aristotle University of Thessaloniki, Thessaloniki, Greece. christoforidis@doctors.org.uk.
authors.forename: Athanasios
authors.initials: A
authors.lastname: Christoforidis
authors.affiliation: Division of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia, Cyprus.|St George's University of London Medical School at the University of Nicosia, Egkomi, Cyprus.|Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
authors.forename: Nicos
authors.initials: N
authors.lastname: Skordis
authors.affiliation: Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
authors.forename: Pavlos
authors.initials: P
authors.lastname: Fanis
authors.affiliation: 1st Pediatric Department, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Meropi
authors.initials: M
authors.lastname: Dimitriadou
authors.affiliation: Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
authors.forename: Maria
authors.initials: M
authors.lastname: Sevastidou
authors.affiliation: NMR Center for Structural Biology, Institute of Integrative Biology, University of Liverpool, Liverpool, UK.
authors.forename: Marie M
authors.initials: MM
authors.lastname: Phelan
authors.affiliation: Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
authors.forename: Vassos
authors.initials: V
authors.lastname: Neocleous
authors.affiliation: Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
authors.forename: Leonidas A
authors.initials: LA
authors.lastname: Phylactou
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005220:Fathers; D005260:Female; D006579:Heterozygote; D006801:Humans; D010375:Pedigree; D011629:Puberty, Precocious / Q000235:genetics*; D012261:Ribonucleoproteins / Q000235:genetics*; D017678:Sex Distribution; D035781:Siblings; D044767:Ubiquitin-Protein Ligases
chemical_list: D018389:Codon, Nonsense; D012261:Ribonucleoproteins; C119425:MKRN3 protein, human; D044767:Ubiquitin-Protein Ligases