title: A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis.
authors.affiliation: Division of Pediatric Cardiology, Children's Heart Center, American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: F
authors.initials: F
authors.lastname: Bitar
authors.affiliation: American University of Beirut, Beirut, Lebanon.
authors.forename: T
authors.initials: T
authors.lastname: Najjar
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Hayashi
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: G
authors.initials: G
authors.lastname: Nemer
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shigehara
authors.affiliation: Medical Student American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: L
authors.initials: L
authors.lastname: Hamie
authors.affiliation: Department of Dermatology, American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: O
authors.initials: O
authors.lastname: Abbas
authors.affiliation: Department of Dermatology, American University of Beirut-Medical Center, Beirut, Lebanon.
authors.forename: A G
authors.initials: AG
authors.lastname: Kibbi
authors.affiliation: Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shimomura
authors.affiliation: Department of Biochemistry and Molecular Genetics, American University of Beirut-Medical Center, Beirut, Lebanon.|Department of Dermatology, American University of Beirut-Medical Center, Beirut, Lebanon.|Department of Dermatology, Columbia University, New York, NY, USA.
authors.forename: M
authors.initials: M
authors.lastname: Kurban
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000235:genetics*; D002311:Cardiomyopathy, Dilated; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D006201:Hair Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D007861:Lebanon; D008297:Male; D009154:Mutation
chemical_list: D051180:Desmoplakins