title: Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
authors.affiliation: Department of Dermatology, Hospital del Niño Jesús, Tucumán, Argentina.
authors.forename: M Del C
authors.initials: Mdel C
authors.lastname: Boente
authors.affiliation: Asad Al-Hamad Dermatology Center, Kuwait.
authors.forename: A
authors.initials: A
authors.lastname: Nanda
authors.affiliation: Department of Cardiology, Hospital del Niño Jesús, Tucumán, Argentina.
authors.forename: P A
authors.initials: PA
authors.lastname: Baselaga
authors.affiliation: Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A. andrew.south@jefferson.edu.
authors.forename: A P
authors.initials: AP
authors.lastname: South
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000235:genetics*; D002648:Child; D004274:DNA, Recombinant / Q000235:genetics; D051180:Desmoplakins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D012873:Skin Diseases, Genetic / Q000235:genetics*; D055815:Young Adult; D051185:gamma Catenin
chemical_list: D004274:DNA, Recombinant; D051180:Desmoplakins; C495292:JUP protein, human; D051185:gamma Catenin